.. A Guide to the Genetics of ..

                    .. Leber's Hereditary Optic Neuropathy 'LHON' ..

                              .. a Mitochondrial Disorder of the Enzyme 'Complex I' ..

Mitochondrial DNA (mtDNA) is a circular molecule of the nucleotide bases Adenine, Cytosine, Guanine, and Thiamine (A, C, G & T). The bases are numbered from 1 to 16,569 and a mutation occurs when the nucleotide at any particular base is different from that found in the Cambridge Reference Sequence (CRS). So, for example, at position 11778 the nucleotide base in the CRS is 'G', but if in a sample this base is an 'A', the sample is said to show the mutation G11778A. Until recently testing was done base by base, but now Complete Sequencing is normal. The National Center for Biotechnology Information, in Bethesda, maintains a database for DNA sequences which now has over 24,000 Complete Human mtDNA sequences; and in this database there are many examples of sequences that show LHON mutations. Most cases of LHON show one of 3 main mutations: G11778A, T14484C or G3460A, and these account for 90-95% of LHON cases around the world, with the remaining 5-10% showing one of about 30 minor mutations. In Europe and the USA the mutation G11778A accounts for about 50% of cases.

GenBank Sequences with LHON mutation G11778A

EUROPEAN: 1. AY882402(Italy) Achilli-Rengo U5b1b1d 15-APR-2005 A73G C150T A263G 315.1C A750G A1438G A2706G T3197C A4769G A5441G A5656G C7028T A7385G A7768G A8860G G9477A T10927C A11467G G11719A G11778A A12308G G12372A G12618A A13308G T13617C T14182C C14766T A15326G G15884A T16189C C16270T 2. DQ341085(LHON Italy) Carelli J1c4 20-MAR-2006 A73G G185A G228A A263G C295T 309.1C 315.1C C462T T489C A750G A1438G A2706G G3010A T4216C A4769G C7028T A8860G A9632G A10398G A11251G G11719A G11778A G11914A T12083G A12612G G13708A C14766T T14798C A15326G C15452A C16069T T16126C 3. DQ341086(LHON Italy) Carelli J1c4 20-MAR-2006 A73G G185A G228A A263G C295T 309.1C 315.1C C462T T489C A750G A1438G A2706G G3010A T4216C A4769G C7028T A8860G A9632G A10398G A11251G G11719A G11778A G11914A T12083G A12612G G13708A C14766T T14798C A15326G C15452A C16069T T16126C 4. DQ341087(LHON Brazil) Carelli J1d2 20-MAR-2006 A73G T152C A263G C295T 315.1C C462T T489C T689C A750G A1438G A2706G G3010A T4216C A4769G C7028T G7789A A7963G A8860G G9123A T10166C A10398G A11251G G11719A G11778A A12612G G13708A G14040A A14280G C14766T A15326G C15452A C16069T T16092Y T16126C G16129R C16186T C16193T T16311C T16362C T16519C 5. DQ341088(LHON Italy) Carelli J1d2 20-MAR-2006 A73G T152C A263G C295T 315.1C C462T T489C T689C A750G A1438G A2706G G3010A T4216C A4769G C7028T G7789A A7963G A8860G G9123A T10166C A10398G A11251G G11719A G11778A A12612G G13708A G14040A A14280G C14766T A15326G C15452A C16069T T16092C T16126C C16186T C16193T T16311C T16362C T16519C 6. EF060363(LHON Italy) La Morgia T2e2a 31-OCT-2007 A73G C150T A263G 309.1C 315.1C C522- A523- G709A A750G A1438G G1888A A2706G A4136G T4216C A4769G A4917G G6026A C7028T T8222C G8697A A8860G G9139A T10463C A11251G G11719A G11778A A11812G G13368A A14233G C14766T G14905A A15326G C15452A A15607G G15928A T16126C G16153A A16293G C16294T C16296T T16519C 7. EF657638 mtDNA466(Europe)Herrnstadt H56 14-JUL-2007 A750G A1438G A4626G A4769G A8860G G11778A C11788T G15317A A15326G 8. EU915476 Pello J1c4 12-DEC-2008 A73G G185A G228A A263G C295T 309.1C 315.1C C462T T489C A750G A1438G A2706G G3010A T4216C A4769G C7028T A8860G A9632G A10398G A11251G G11719A G11778A G11914A T12083G A12612G G13708A C14766T T14798C A15326G C15452A C16069T T16126C 9. EU915477 Pello U5a1b1a 12-DEC-2008 A73G A263G 315.1C 356.1C A750G A1438G A2706G C2906T T3197C T4553C G4655A A4769G C4914T C7028T A8860G G9477A A9667G A11467G G11719A G11778A A12308G G12372A T13617C C14766T A14793G A15326G C16192T C16256T C16270T C16291T A16399G 10. GQ304746 Ghelli J1c2c1a 20-DEC-2009 A73G T146C G185A A188G C222T G228A A263G C295T 315.1C C462T T489C A750G A1438G A2706G G3010A T3456C T4216C A4769G C7028T A8860G G9145A A10398G T10454C G10685A A11251G G11719A G11778A A12612G T13281C G13708A A13933G C14766T T14798C A15326G C15452A C16069T T16126C C16261A T16519C 11. GQ304747 Ghelli H 20-DEC-2009 A263G 309.1C 309.2C 315.1C 523.1C 523.2A A750G A1438G T1520C A4769G C6173T A7904G A8860G G9548A G11778A G14249A A15326G A16162G C16192T C16465T 12. HM852817(Iranian 12) Schoenberg I5 17-MAR-2011 A73G T204C T250C A257N A263G T310C C459- G709A A750G A1438G G1719A A2706G A4529T A4769G C6506T T6590C C7028T G8251A A8860G T10034C T10238C A10398G A10502C G11719A G11778A G12501A C12705T A13780G A14233G C14766T G15043A A15326G C15331A A15924G T16017C G16129A C16223T T16288C G16391A T16519C 13. HQ384209(Spain40) Gomez-Carballa U6a3a1 05-JUL-2011 A73G A263G 309.1C 315.1C A750G A1438G A2706G A3348G A4769G G4820A C7028T G7805A A8860G A10892T A11467G G11719A G11778A A12308G G12372A C12976T A14179G G14364A C14766T A15326G C15790T T16172C A16183- T16189C 16193.1C A16219G C16278T 14. JQ702913 Behar U5a1g 07-APR-2012 A73G A263G 315.1C A750G A1438G A2706G T3197C A4769G C7028T C7792T A8860G G9477A A11467G G11719A G11778A G11914A A12308G G12372A T13617C C14766T A14793G A15218G G15317A A15326G C16256T C16270T A16293G A16399G 15. JQ704550 Behar H3a1 07-APR-2012 T152C T195C A263G 309.1C 315.1C A750G A1438G A4769G T6776C A8860G G11778A T13404C A15326G C16239G T16311C T16519C 16. JQ797793(Ireland) Pala J1c1g 22-MAY-2012 A73G G185A G228A A263G C295T 315.1C C462T T482C T489C A750G A1438G A2706G G3010A T3394C T4216C A4769G C7028T G7910R G8020A A8860G A10398G A11251G T11287C G11719A G11778A A12612G G13708A C14766T T14798C A15326G C15452A C16069T T16126C C16292T 17. JQ797797(France) Pala J1c1 22-MAY-2012 A73G G185A G228A A263G C295T 309.1C 315.1C C462T T482C T489C 573.1C 573.2C A750G C870- A1438G A1790R A2706G G3010A T3394C T4216C A4769G C7028T A8860G A10398G A11251G G11719A G11778A A12612G G13708A A14189G C14766T T14798C A15326G C15452A C16069T T16126C 18. JQ446408(India-LHON G11778A) Khan HV14 31-JAN-2013 C150T A263G 309.1C 309.2C 315.1C T480C A750G A1438G A2706G G4655A A4769G T6671C C7028T A8860G G11778A T16224C T16304C T16311C 19. JQ446409(India-LHON G11778A) Khan U2b2 31-JAN-2013 A73G T146C T152C A234G A263G 309.1C 315.1C A750G A1438G A1811G G1888A C3310T A4769G A5186T G7789A T9104C A9614G A11467G G11719A G11778A C12106T A12309G G12372A T12793C G13194A T13656C T13768C C15049T A15326G G15930A A16051G T16209C C16239T T16352C C16353T 20. JX462739(India-LHON) Khan U2e1b 22-JUL-2013 A73G T152C T217C A263G 309.1C 309.2C 315.1C C340T A508G A750G G988A A1438G A1555G G1719A A1811G A2706G A3720G A4769G A5390G T5426C 5899.1C 5899.2C C6045T T6152C C7028T A8860G A9519G A10876G A11467G G11719A G11778A A12308G G12372A T13020C T13734C C14766T T14783C A15326G A15907G A16051G G16129C A16183- T16189C 16193.1C A16194C T16362C 21. JX462706(India-LHON P42) Khan U7a3 31-AUG-2013 A73G C151T T152C T195C A263G 315.1C A750G A1438G A1811G A2706G T3150C C3741T A3892G A4769G C5360T C7028T C8137T C8684T A8860G G9452A A10398G C10400T A11467G G11719A G11778A A12308G G12372A G12618A C12705T T13500C G14560A A15326G A16309G A16318T 22. JX462708(India-LHON P44) Khan U2e2 31-AUG-2013 A73G T152C T217C A263G 315.1C A508G A750G A1438G A1811G A2706G C3690T A3720G A4769G A5390G T5426C C6045T T6152C C7028T T8473C A8860G A10876G A11467G G11719A G11778A A12308G G12372A C12557T T13020C A13701G T13734C C14766T A15326G A15907G A16051G T16092C G16129C T16189C T16362C 23. JX462710(India-LHON P46) Khan I1 31-AUG-2013 A73G T199C T204C T250C A263G 309.1C 315.1C 455.1T 573.1C A750G A1438G G1719A A2706G G2831A A4529T A4769G T6185C T6524C G6734A G6755A C7028T A7796G G8251A A8860G A9263G G9966A T10034C T10238C A10398G G11719A G11778A G12007A G12501A C12705T A13780G C14766T G15043A A15326G A15924G G16129A C16223T T16311C C16355T G16391A T16519C 24. JX462721(India-LHON P57) Khan U7a 31-AUG-2013 A73G C151T T152C A263G 309.1C 315.1C A750G T980C A1438G A1811G G2197A A2706G G2831A C3741T A4638G A4769G C5360T C7028T T7922G C8137T C8684T A8860G C10142T A11467G G11719A G11778A A12308G G12372A T13500C G14569A C14766T A15326G C16095T C16193T A16309G A16318T T16519C 25. JX462724(India-LHON P60) Khan U4a1 31-AUG-2013 A73G T152C T195C A263G 315.1C G499A A750G A1438G A1811G A2706G T4646C A4769G T5976G T5999C A6047G C7028T C8818T A8860G C11332T A11467G G11719A G11778A A12308G G12372A A12937G A13722G C14620T C14766T C15031T A15326G T15690C C16134T C16223T T16356C 26. JX462725(India-LHON P61) Khan T 31-AUG-2013 A73G T195C A263G 309.1C 315.1C G709A A750G T1406C A1438G A1829G G1888A A2706G T4216C A4225G A4769G A4917G C7028T G8697A A8860G T10463C A11251G A11467G G11719A G11778A G13368A A13956G G13980A C14766T G14905A A15326G C15452A A15509G A15607G G15928A T16126C C16294T T16325C 27. JX462726(India-LHON P62) Khan U2b1 31-AUG-2013 A73G T146C T152C A263G 309.1C 315.1C A750G A1277C A1438G A1811G G3914A A4093G G4481A T4500C A4769G A5186G C7028T G8743A A8860G G9380A A11467G G11719A G11778A C12106T A12308G G12372A G13194A C14766T C15049T A15326G A16051G C16168T T16249C 28. JX462730(India-LHON P66) Khan U5a2a1 31-AUG-2013 A73G A263G 315.1C A750G A1438G A2706G T3197C A4769G C7028T A8860G G9477A A11467G G11719A G11778A A12308G G12372A T13617C A13827G G13928C C14766T A14793G A15326G C16114A C16192T C16256T C16270T C16294T 29. JX462731(India-LHON P67) Khan U5b2a1a2 31-AUG-2013 A73G C150T A263G 315.1C A750G A1438G C1721T T1834C A2706G T3197C T4695C A4732G A4769G C5452T C7028T A7768G T8705C A8860G G9477A C10631T A11467G G11719A G11778A A12308G G12372A T13617C A13637G A13956G T14182C C14766T A15326G T15511C A15924G C16192T C16270T 30. JX462732(India-LHON P68) Khan U1a3 31-AUG-2013 A73G A263G C285T 309.1C 309.2C 315.1C A750G T1243C A1438G C2218T A2706G A4769G G4991A G6026A C7028T T7581C A8860G T10253C A11467G G11719A G11778A A12308G G12372A T12879C A13104G A14070G G14364A C14766T T15115C G15148A G15217A A15326G A15954C A16182- A16183- T16189C 16193.1C 16193.2C T16249C 31. JX462739(India-LHON P75) Khan U2e1b 22-JUL-2013 A73G T152C T217C A263G 309.1C 309.2C 315.1C C340T A508G A750G G988A A1438G A1555G G1719A A1811G A2706G A3720G A4769G A5390G T5426C 5899.1C 5899.2C C6045T T6152C C7028T A8860G A9519G A10876G A11467G G11719A G11778A A12308G G12372A T13020C T13734C C14766T T14783C A15326G A15907G A16051G G16129C A16183- T16189C 16193.1C A16194C T16362C 32. JX508852(India-LHON P79) Khan X2p1 31-AUG-2013 A73G A153G T195C A263G 309.1C 315.1C G513A A750G A1438G C1715T G1719A A2706G A4093G A4769G T6221C C6371Y C7028T C7109T A8645G A8860G T9708C G11719A G11778A A12172G A12290G A12358G C12705T A13966G T14470C C14766T A15326G T16189C C16223T C16278T C16291T 33. JX508853(India-LHON P80) Khan X2p1 31-AUG-2013 A73G A153G T195C A263G 309.1C 315.1C G513A A750G A1438G G1719A A2706G A4093G A4769G T6221C C6371T C7028T C7109T A8645G A8860G T9708C G11719A G11778A C12705T A13966G T14470C C14766T A15326G C16111T T16172C T16189C C16223T C16278T C16291T T16519C 34. KF161408(Denmark) Li T1a1k 01-OCT-2013 A73G T152C T195C A263G T310C C314N C315N G316N C317N T318N T319N C320N T321N C469T G709A A750G T1284C A1438G G1888A A2706G T4216C A4337N A4769G A4917G C7028T G8697A A8860G T9899C T10463C A11251G G11719A G11778A C12633A G13368A C14766T G14905A A15326G C15452A A15607G G15928A T16126C A16163G C16186T T16189C C16294T T16519C 35. KF162305(Denmark) Li U4d1 01-OCT-2013 A73G T195C T217N-C311N G499A 523.1C 523.2A T629C A750G A1438G A1811G 2405.1C A2706N C2772T T4639N T4646N C4660N A4769G A5649N T5999C A6047N T6092N A6095N C6104N T6232N A6233N C6250N A6254N G6255N C7028T A8103N T8104N G8105N A8108N T8109N T8110N C8111N A8860G T8877C C9717T A10168N C10175N A10570N A10575N A10583N C11332T A11467G G11719A A11764G G11778A A12308G G12372A C13763T C14620T C14766T A15326G T15693C T16093C A16272G A16293G T16356C T16519C 36. JX153866(Denmark) Raule H13a1a1a 10-JAN-2014 T152C A263G 309.1C 315.1C A750G A1438G C2259T A4745G A4769G G7337A A8860G G11778A T13326C C13680T G14831A C14872T A15326G 37. KJ856805(Polish) Derenko U2e2a1a 16-OCT-2014 A73G T152C T217C A263G T310C A508G A750G A1438G A1811G A2706G A3720G G3849A T4553C T4736C A4769G A5390G T5426C C6045T T6152C C7028T T8473C A8860G G9932A A10876G A11467G G11719A G11778R A12308G G12372A C12557T T13020C T13734C C14766T A15326G A15907G A16051G T16092C G16129C A16182- A16183- T16189C 16193.1C 16193.2C T16362C T16519C "; break;} ASIAN: 1. EU545470(China-LHON) Wang G2a 20-AUG-2008 A73G T152C A263G 315.1C T489C 573.1C 573.2C 573.3C 573.4C 573.5C G709A A750G A1438G C2357A A2706G C3351T A4721G A4769G A4833G T5108C C5601T C7028T G7600A G7604A A8701G A8860G A9377G T9540C G9575A A10398G C10400T T10873C G11719A G11778A C12705T A13563G G14569A C14766T T14783C G15043A G15301A A15326G C16223T A16227G C16278T T16362C 2. EU545471(China-LHON) Wang G2a1 20-AUG-2008 A73G T173C A263G 309.1C 315.1C T489C G709A A750G A1438G A2706G A4769G A4833G T5108C C5601T C7028T G7600A A8701G A8860G A9377G T9540C G9575A A10398G C10400T T10873C G11719A G11778A C12705T A13563G G13708A T14200C G14569A C14766T T14783C G15043A G15301A A15326G G16129A C16223T C16278T T16362C 3. EU545472(China-LHON) Wang G2a1 20-AUG-2008 A73G T173C A263G 309.1C 315.1C T489C G709A A750G A1438G A2706G A4769G A4833G T5108C C5601T C7028T G7600A A8701G A8860G A9377G T9540C G9575A A10398G C10400T T10873C G11719A G11778A C12705T A13563G G13708A T14200C G14569A C14766T T14783C G15043A G15301A A15326G G16129A C16223T C16278T T16362C 4. FJ015040(LHON) Zhang G2b1a 06-NOV-2008 A73G A263G 309.1C 315.1C T489C G709A A750G A1438G A1555G A2706G A4769G A4833G G4853A T5108C C5601T C7028T A8701G A8860G T8877C T9540C A10398G C10400T T10873C C11151T T11353C G11719A G11778A G11887A C12705T A13563G G14569A C14766T T14783C G15043A G15301A A15326G C16223T T16362C A16463G 5. FJ198214(LHON) Ji F1a1 23-DEC-2008 A73G A249- A263G 309.1C 315.1C C522- A523- A750G A1438G A2706G C3970T C4086T T4216C A4769G T5483C T6392C A6527G G6962A C7028T A8507G G8545A G8839A A8860G G9053A G9548A G10310A T10609C G11719A G11778A G12406A C12882T G13759A G13928C C14766T A15326G G16129A C16148T A16162G T16172C G16244A T16304C A16335G T16519C 6. FJ198215(LHON) Ji F2a 23-DEC-2008 A73G T246C A249- A263G C296T 309.1C 315.1C A750G T1005C A1438G T1824C A2706G C3970T A4769G T6392C C7028T A7828G A8860G G10310A T10535C G10586A G11719A G11778A T12338C G12372A G13708A G13928C C14766T A15326G T16093C A16203G C16291T T16304C T16519C 7. FJ198216(LHON) Ji F1b1 23-DEC-2008 A73G T152C A249- A263G C309- 315.1C C522- A523- A750G A1438G A2706G C3970T A4732G A4769G G5147A T5508C T6392C G6962A C7028T A8860G C10223T T10235C G10310A T10609C C10976T G11719A G11778A G12406A C12882T G13928C G14476A C14766T G15119A A15326G G15734A A16182- A16183- T16189C 16193.1C 16193.2C C16232A T16304C T16519C 8. FJ198217(LHON) Ji G2a1 23-DEC-2008 A73G A263G 309.1C 315.1C T489C G709A A750G A1438G A2706G A4769G A4833G T5108C C5601T C7028T T7148C G7600A A8701G A8860G A9377G T9540C G9575A A10398G C10400T T10873C G11719A G11778A C12705T A13563G T14200C G14569A C14766T T14783C G15043A G15301A A15326G T16117C C16223T A16227G C16278T T16362C 9. FJ198218(LHON) Ji G1c 23-DEC-2008 A73G A263G 309.1C 315.1C T489C T593C G709A A750G A1438G A2706G A4769G A4833G T4973C T5108C T5333C C7028T C8161T T8200C A8701G A8860G T9540C G9966A A10398G C10400T T10873C G11719A G11778A C12705T G14569A C14766T T14783C G15043A G15301A G15323A A15326G G15497A C16223T T16362C T16519C 10. FJ198219(LHON) Ji M7b 23-DEC-2008 A73G C150T T159C T199C A263G 309.1C 309.2C 315.1C T489C A750G A1438G A2706G G4048A C4071T A4164G A4769G A5351G G5460A C6455T T6680C C7028T G7444C T7684C G7853A A8701G A8860G T9540C G9575A T9824C C10159T A10398G C10400T T10873C G11719A G11778A T11944C C12405T C12705T T12811C C14766T T14783C G15043A G15301A A15326G T16092C G16129A C16192T C16223T T16297C C16360T 11. FJ198220(LHON) Ji M7b1 23-DEC-2008 A73G C150T T199C A263G 309.1C 315.1C T489C A750G A1438G A2706G G4048A C4071T A4164G A4769G T5130C A5351G G5460A C6455T T6680C C7028T T7684C G7853A A8701G A8860G T9540C T9824C A10397G A10398G C10400T T10873C G11719A G11778A C12405T C12705T T12811C A13105G C14766T T14783C G15043A G15301A A15326G G16129A C16192T C16223T T16297C 12. FJ198221(LHON) Ji M7b 23-DEC-2008 A73G C150T T159C C182T T199C A263G 315.1C T489C A750G A1438G A2706G G4048A C4071T A4164G A4769G A5351G G5460A C6455T T6680C C7028T T7684C G7853A A8701G A8860G T9540C C9732T T9824C T10084C C10159T A10398G C10400T T10873C G11719A G11778A T11944C C12405T C12705T T12811C C14766T T14783C T14971C G15043A G15301A A15326G T16092C G16129A C16192T C16223T A16254G T16297C 13. FJ198222(LHON) Ji M7b 23-DEC-2008 A73G C150T T199C A263G 309.1C 309.2C 315.1C T489C A750G T980C A1438G A2706G G4048A C4071T A4164G A4769G A5351G G5460A A6125G C6455T T6680C C7028T T7684C G7853A A8701G A8860G T9540C T9824C A10398G C10400T T10873C G11719A G11778A C12405T C12705T T12811C C14766T T14783C G15043A G15301A A15326G G16129A C16192T C16223T T16297C 14. FJ198223(LHON) Ji M7b 23-DEC-2008 A73G T146C C150T T199C A263G 309.1C 315.1C T489C A750G G930A A1438G A2706G G4048A C4071T A4164G A4769G T5267C A5351G G5460A C6455T C6665T T6680C C7028T A7158G T7684C G7853A T8110C T8167C A8701G A8860G T9540C T9824C A10398G C10400T T10873C G11719A G11778A C12405T C12705T T12811C C14766T T14783C G15043A G15301A A15326G G16129A C16223T T16297C 15. FJ198224(LHON) Ji M7b 23-DEC-2008 A73G C150T T199C A263G 309.1C 315.1C T489C A750G A1438G A2706G G4048A C4071T A4164G T4586C A4769G A5351G G5460A C6228T C6455T T6680C C7028T T7684C G7853A A8701G A8860G T9540C C9732T T9824C A10398G C10400T T10873C C11407T G11719A G11778A C12405T C12705T T12811C C14766T T14783C G15043A G15301A A15326G G16129A C16223T A16269G T16297C C16527T 16. FJ198225(LHON) Ji M7b 23-DEC-2008 A73G C150T T199C A263G 309.1C 309.2C 315.1C T489C A750G A1438G A2706G G4048A C4071T A4164G A4769G A5351G G5460A C6455T T6680C C7028T T7684C G7853A A8701G A8860G T9540C T9824C T10345C A10398G C10400T T10873C G11719A G11778A C12405T C12705T T12811C C14766T T14783C G15043A G15301A A15326G G16129A A16183- T16189C 16193.1C C16223T T16297C T16298C T16311C 17. FJ198226(LHON) Ji M8a2 23-DEC-2008 A73G T195C A263G 309.1C 309.2C 315.1C T489C A750G A1438G A2706G G3776A A4715G A4769G C5100T G6179A C7028T C7196A G8584A C8684T A8701G A8860G T9540C A10398G C10400T T10873C G11719A G11778A C12705T T14470C C14766T T14783C G15043A G15301A A15326G A15487T C16134T C16184T T16189C C16223T T16298C G16319A 18. FJ198227(LHON) Ji M8a2 23-DEC-2008 A73G A263G 315.1C T489C A750G A1438G A2706G C2835T A4715G A4769G G6179A C7028T C7196A G8584A C8684T A8701G A8860G T9540C A10398G C10400T T10873C G11719A G11778A A12172G C12705T T14470C C14766T T14783C G15043A G15301A A15326G A15487T T15530C G15734A C16184T C16223T T16298C G16319A 19. FJ198228(LHON) Ji M8a2b 23-DEC-2008 A73G T152C A263G 309.1C 315.1C T489C A750G A1438G A2706G C2835T C4670T A4715G A4769G G6179A T6671C C7028T C7196A G8584A C8684T A8701G A8860G T9540C A10398G C10400T T10747A T10873C G11719A G11778A C12705T A13050G G14259A T14470C A14693G C14766T T14783C G15043A G15301A A15326G A15487T G15927A C16184T C16223T T16298C G16319A 20. HM346902 Peng M9a1a2 16-JAN-2011 A73G A153G A263G 315.1C T489C A750G A1041G A1438G A2706G T3394C G4491A A4769G C7028T C7256T A8701G A8860G G9305A T9540C A10398G C10400T T10873C G11719A G11778A C12705T T14308C C14766T T14783C G15043A G15301A A15326G G16145A C16223T C16234T A16316G T16362C 21. JF896797(China LHON) Zhang C7a2 26-OCT-2011 A73G A249- A263G 309.1C 309.2C 315.1C T489C T593C A750G A1438G 2232.1A A2706G T3552A A4715G A4769G G5821A G6249A A6338G C7007T C7028T C7196A G7853A C7990T G8584A A8701G A8860G T9540C A9545G A10398G C10400T T10873C G11719A G11778A G11914A C12705T A13263G T14318C C14766T T14783C G15043A G15301A A15326G A15487T A16183- T16189C 16193.1C C16223T T16298C C16327T T16519C 22. JF896798(China LHON) Zhang M7b1'2'4 26-OCT-2011 A73G C150T T199C A263G 315.1C T489C T593C A750G A1438G T1694C A2706G G4048A C4071T C4137T A4164G A4769G A5351G G5460A C6455T T6680C C7028T T7684C G7853A A8701G A8860G T9540C T9824C A10398G C10400T T10873C C11659T G11719A G11778A C12405T C12705T T12811C C14766T T14783C G15043A G15301A A15326G G16129A T16189C C16223T T16297C T16519C 23. JF896799(China LHON) Zhang D4g2 26-OCT-2011 A73G A263G C298T 315.1C T489C T593C A750G A1438G A2706G G3010A A4769G C4883T G4959A C5178A G5231A C7028T C8414T A8701G A8860G T9540C A10398G C10400T T10873C G11719A G11778A T11935C C12705T A12972G A13104G C14668T C14766T T14783C G15043A G15301A A15326G C16223T T16271C T16362C T16519C 24. JF896800(China LHON) Zhang B5a1c1 26-OCT-2011 C64T A73G A210G A263G 309.1C 315.1C C522- A523- T593C G709A A750G A1438G A2706G A3537G A4769G G5237A C6960T C7028T C8281- C8282- C8283- C8284- C8285- T8286- C8287- T8288- A8289- G8584A A8860G T9950C G10325A A10398G A10523G G11719A G11778A C14766T A15235G A15326G T16140C A16183- T16189C 16193.1C C16262T C16266A T16519C 25. JF896801(China LHON) Zhang B5a1c1 26-OCT-2011 A73G A210G A263G 309.1C 315.1C C522- A523- T593C G709A A750G A1438G A2706G A3537G A4769G G5237A C6960T C7028T C8281- C8282- C8283- C8284- C8285- T8286- C8287- T8288- A8289- G8584A A8860G T9950C G10325A A10398G A10523G G11719A G11778A C14766T A15235G A15326G T16140C A16183- T16189C 16193.1C C16262T C16266A T16519C 26. JN645818(LHON) Zhang M7b2 12-DEC-2011 A73G C150T T199C A263G 309.1C 309.2C 315.1C T489C A750G A866G A1438G A2706G G4048A C4071T A4164G A4769G A5351G G5460A C6455T T6680C C7028T T7684C G7853A A8701G A8860G T8999C T9540C T9824C T10345C A10398G C10400T T10873C G11719A G11778A C12405T C12705T T12811C C14766T T14783C G15043A G15301A A15326G G16129A A16183- T16189C 16193.1C C16223T T16297C T16298C T16325C 27. JN645819(LHON) Zhang M7b1 12-DEC-2011 A73G C150T T199C A263G 309.1C 315.1C T489C A750G A1438G A2706G G4048A C4071T A4164G T4736C A4769G A5351G G5460A C6455T A6509G T6680C T6827C C7028T T7684C G7853A A8701G A8860G T9540C T9824C A10398G C10400T T10861C T10873C G11719A G11778A C12405T C12705T T12811C A13105G C14766T T14783C G15043A G15301A A15326G G16129A C16192T C16223T T16297C 28. JN645820(LHON) Zhang M7b1 12-DEC-2011 A73G C150T T199C A263G 309.1C 315.1C T489C A750G A1438G A2706G G4048A C4071T A4164G A4769G A5351G G5460A C6228T C6455T T6680C C7028T T7684C G7853A A8701G A8860G T9540C T9824C A10232G A10398G C10400T T10873C G11719A G11778A C12405T C12705T T12811C C14766T T14783C G15043A G15301A A15326G G16129A C16192T C16223T T16297C 29. JN645821(LHON) Zhang M7b1'2'4 12-DEC-2011 A73G C150T T199C T204C A263G 309.1C 309.2C 315.1C C456T T489C A750G A1438G A2706G G4048A C4071T A4164G A4769G A5351G G5460A C6455T T6680C C7028T T7684C G7853A A8701G A8860G T9540C T9824C A10398G C10400T T10873C G11719A G11778A C12405T C12705T T12811C C14766T T14783C A14978G G15043A G15301A A15326G G16129A T16189C C16223T T16297C 30. JQ446407(India-LHON G11778A) Khan M18a 31-JAN-2013 A73G A93G C194T T246C A263G 315.1C T489C A750G A1438G A2706G A4231G T4240C A4769G C7028T A8701G A8860G T9540C A10398G C10400T T10873C A11083G A11084G G11719A G11778A G12007A C12498T C12705T G13135A T14783C G15043A A15156G G15301A A15326G C16223T A16318T T16519C 31. JQ446410(India-LHON G11778A) Khan M4''67 31-JAN-2013 T195C A750G A2706G A4769G A6284G T6827C C7028T A8701G A8860G C9061T T9540C C9893T A10398G C10400T A10610G T10873C G11719A G11778A G12007A C12705T C13653T C14766T T14783C G15043A G15301A A15326G C16184T C16223T 32. JX462680(India-LHON P16) Khan M13a1 31-AUG-2013 A73G T152C A263G 309.1C 315.1C C345T T489C C516A A1438G A2706G T3644C T3645C G4580A A4769G G5773A G6023A T6253C T6620C C7028T T8005C A8701G A8860G C9383T T9540C A10398G C10400T A10411G T10790C T10873C G11719A G11778A G12007A A12308G C12705T G13135A A14526G A14737G C14766T T14783C A14822G G15043A G15301A A15326G A15924G G16145A T16189C C16223T C16266T T16381C 33. JX462681(India-LHON P17) Khan M30 31-AUG-2013 A73G T195A A200G A263G 315.1C T489C A750G T1407C A1438G A2706G A4769G G6962A C7028T A7436G T7861C A8701G A8860G T9540C A10398G C10400T T10873C G11719A G11778A G12007A C12705T C14766T G15043A G15301A A15326G G15431A T16093C C16223T T16519C 35. JX462683(India-LHON P19) Khan M30 31-AUG-2013 A73G T152C T195A A263G 315.1C T489C C522D A523D A750G A1438G A2706G G2831A A4769G A5429G C7028T A8701G A8860G T9540C A10398G C10400T T10873C G11719A G11778A G12007A C12705T T12892C A14572G C14766T T14783C G15043A G15301A A15326G G15431A C16223T C16234T T16362C T16519C 36. JX462684(India-LHON P20) Khan M30 31-AUG-2013 A73G T152C T195A A263G 315.1C T489C A750G A1438G A2706G A4769G C7028T A8701G A8860G T9540C A10398G C10400T T10873C G11719A G11778A G12007A C12705T T12892C A14572G C14766T T14783C G15043A G15301A A15326G G15431A C16223T T16362C T16519C 37. JX462685(India-LHON P21) Khan M42b1 31-AUG-2013 A73G A93G T152C A234G A263G 309.1C 315.1C T489C A750G A1438G G1760A A2706G G2831A A2880G A4769G T4967C A5429G T6160A C7028T C7229T C7533T G8251A T8462C T8597C A8701G A8860G A9156G T9165C T9540C G10310C A10398G C10400T T10873C G11719A G11778A C12705T C14766T T14783C G15043A G15301A A15326G T15822C T16189C C16193T 38. JX462686(India-LHON P22) Khan M5 31-AUG-2013 A73G T152C A263G 315.1C T489C C494T G709A A750G A1438G G1888A A2706G C3921T A4769G C7028T G8020A A8701G A8860G T9540C A10398G C10400T T10873C G11719A G11778A T12467C C12705T G14323A C14383T C14766T T14783C G15043A G15301A A15326G T16093C G16129A C16223T T16519C 39. JX462687(India-LHON) Khan M5 22-JUL-2013 A73G T152C A263G 315.1C T489C C494T A750G A1438G A1555G G1888A A2706G A4769G A6047G C7028T G8020A A8701G A8860G T9540C A10398G C10400T T10873C G11719A G11778A C12705T C14766T T14783C G15043A G15301A A15326G T16093C G16129A C16223T T16519C 40. JX462689(India-LHON P25) Khan M3a1 31-AUG-2013 A73G T146C T204C A263G 315.1C T482C T489C A750G A1438G A2706G G4580A T4703C A4769G T6392C C7028T A8701G A8860G T9540C A10398G C10400T A10694G T10873C A11001G G11719A G11778A C12705T C14766T T14783C G15043A G15301A A15326G T16126C C16223T 41. JX462691(India-LHON P27) Khan M52a1 31-AUG-2013 A73G T146C A263G 309.1C 315.1C T489C A493G 573.1C 573.2C 573.3C A750G A1438G G1462T G1598A T2222C A2706G T4525C T4622C A4769G C4814T G5460A C7028T A8701G A8860G T9540C T9854C A10398G C10400T T10873C A11015G G11719A G11778A C12705T C14766T T14783C A14822G G15043A G15301A A15326G C15349T T16172C T16217C C16223T T16298C G16390A 42. JX462692(India-LHON P28) Khan M66 31-AUG-2013 A73G T195C C198T T204C A263G 315.1C T489C A750G A1438G G1888A A2706G G4541A A4769G T6827C C7028T A8701G A8860G C9061T T9540C C9893T A10398G C10400T A10610G T10873C G11719A G11778A G12007A C12705T C13653T C14766T T14783C G15043A G15301A A15326G A16171G C16184T C16223T T16519C 43. JX462693(India-LHON P29) Khan M30 31-AUG-2013 A73G T195A T204C A263G 315.1C T489C A750G A1438G G1462A A2706G G2831A A4769G C6119T C7028T A8701G A8860G T9540C A10398G C10400T T10873C G11719A G11778A C12705T C14766T T14783C G15043A G15301A A15326G G15431A C16223T 44. JX462694(India-LHON P30) Khan M18b 31-AUG-2013 A73G T146C T246C A263G 315.1C T489C A750G A1438G A2706G T3368G A3390G A4769G C7028T T8277C A8701G A8860G T9540C A10398G C10400T T10873C G11719A G11778A G12007A C12705T G13135A A14587G C14766T T14783C G15043A G15301A A15326G C16223T A16318T T16325C 45. JX462695(India-LHON P31) Khan M2a1 31-AUG-2013 A73G T204C A263G 309.1C 315.1C C447G T489C A750G A1438G T1780C C2378T A2706G A4769G G5252A G6267A C7028T G7762A T7961C A8396G A8502G A8701G A8860G T9540C T9758C A10398G C10400T T10873C A11083G G11719A G11778A C12705T A12810G T13281C A14572G C14766T T14783C G15043A G15301A A15326G T15670C C16176T C16223T T16224C C16270T G16274A G16319A T16352C 46. JX462696(India-LHON P32) Khan M 31-AUG-2013 A73G T146C T195G A263G 315.1C T489C A750G A1438G A2706G A4758G C7028T C7948T G8251A A8701G A8860G G8865A T9540C A10398G C10400T T10873C G11719A G11778A C12705T A14473G A14526G A14737G C14766T T14783C G15043A G15301A A15326G G15431A C16223T 47. JX462698(India-LHON P34) Khan M2a3 31-AUG-2013 A73G T146C A263G 309.1C 309.2C 315.1C C447G T489C A750G A1438G T1780C A2706G A4769G T5426C T5774C C6377T C7028T G7762A T7961C A8502G A8701G A8860G G9022A T9540C A10398G C10400T T10873C A11083G G11719A G11778A C12705T A12810G C14766T T14783C G15043A T15115C G15301A A15326G T15670C C16223T G16274A G16319A G16391A 48. JX462700(India-LHON P36) Khan M3a1 31-AUG-2013 A73G T204C T217C A263G 315.1C T482C T489C A750G A1438G A2706G G4580A T4703C A4769G C7028T A8701G A8860G T9540C G10325A A10398G C10400T C10845T T10873C G11719A G11778A C12705T C14766T T14783C G15043A G15301A A15326G T16126C C16223T 49. JX462701(India-LHON P37) Khan M2a 31-AUG-2013 A73G T204C A263G 309.1C 309.2C 315.1C C447G T489C A750G A1438G T1780C A2706G A4769G C7028T T7961C A8502G A8701G A8860G T9540C T9601A T9758C A10398G C10400T T10873C A11083G G11719A G11778A C12705T A12810G C14766T T14783C G15043A G15301A A15326G T15670C C16186T T16189C 16193.1C C16223T G16274A G16319A 50. JX462702(India-LHON P38) Khan R30a 31-AUG-2013 A73G A263G 309.1C 315.1C A750G A1438G A2706G G3316A A4769G G4959A G6764A C7028T G8584A C9902T T10118C C10132A A10136C C11047A G11719A G11778A T12714C C14766T A14903C T15055C A15326G T15642C A15896G 51. JX462703(India-LHON P39) Khan M65a 31-AUG-2013 A73G A263G 315.1C T489C C511T A750G A1438G G1664A G2695A A2706G G2831A G3316A A4769G A4916G C6377T C6584T C7028T G8251A A8701G A8860G T9540C A10398G C10400T T10873C C10976T A11413G G11719A G11778A G12007A G12618A C12705T A13651G C14766T T14783C G15043A G15301A A15326G A15924G C16223T A16289G T16311C 52. JX462704(India-LHON P40) Khan M3a1 31-AUG-2013 A73G T195C A263G 315.1C T482C T489C A750G A1438G A2706G G4580A T4703C A4769G C7028T A8701G A8860G T9540C A10398G C10400T T10873C G11719A G11778A C12705T A14526G C14766T T14783C G15043A G15301A A15326G 15624.1T T16126C C16223T C16234T 53. JX462707(India-LHON P43) Khan R30a 31-AUG-2013 A73G A263G 309.1C 309.2C 315.1C A750G A1438G G2056A A2706G G2724A G3316A G3824A T4232C A4769G T5267C T5442C G6764A C7028T G8584A A8860G G9142A A9156G A9242G C9869G C11047A G11719A G11778A T12714C A13113G T13161C A13773G A14456G C14766T T15055C A15326G T16172C C16278T 54. JX462709(India-LHON P45) Khan M2b1 31-AUG-2013 A73G T152C C182T T195C A263G 309.1C 315.1C T407C C447G T489C A750G T1391C A1438G A1453G T1780C A2706G G2831A C3630T A4769G T4928C T5420C G5744A G6260A A6647G C7028T G8155A C8349T A8502G A8701G A8860G T9540C T9899C A10398G C10400T T10873C G11016A A11083G G11719A G11778A C12705T A12777G T13254C T14126C C14766T T14783C G15043A G15301A A15326G T15670C 16169.1C A16183- T16189C 16193.1C C16321T 55. JX462711(India-LHON P47) Khan M65a 31-AUG-2013 A73G A263G 315.1C T489C C511T A750G A1438G A2706G G2831A A4769G A4916G G5147A T6152C C7028T A8701G A8860G A9410G T9540C T9716C A10398G C10400T T10873C G11719A G11778A G12007A C12705T A13651G G13708A T14783C G15043A G15217A G15301A A15326G C16223T A16289G T16311C 56. JX462713(India-LHON P49) Khan M33d 31-AUG-2013 A73G T152C T204C G207A A263G 315.1C T489C G513A A750G A1438G G2361A A2706G G2719A G2983A C3116T A4024G A4769G C6563T C7028T T8668C A8701G A8860G T9540C T9924C G9966A A10398G C10400T T10873C C10969T G11719A G11778A C12705T C13788T C14766T T14783C C14950T G15043A G15301A A15326G T15729C A15924G T16178C C16223T T16288C 57. JX462714(India-LHON P50) Khan M 31-AUG-2013 A73G T146C G207A A263G 315.1C 356.1A A359C T489C A750G A1438G T2336G A2706G G2831A T4688C A4769G C5279A A6047G C7028T T8143C A8271G A8307G A8701G A8860G T9540C A9780T A10398G C10400T G11719A G11778A G12007A C12705T T14783C G15043A C16223T A16227G C16320T 58. JX462716(India-LHON P52) Khan M6a1 31-AUG-2013 A73G A200G A263G 315.1C 455.1C C459- C461T T489C A750G A1438G A2706G C3486T A3537G A4769G T5082C A5301G A5558G C7028T A8701G A8860G G8865A G9329A T9540C G9575A A10398G C10400T T10640C T10873C G11719A G11778A C12705T A13966G A14128G C14766T T14783C G15043A G15301R A15326G C16192T C16223T T16231C T16362C 59. JX462717(India-LHON P53) Khan M52a 31-AUG-2013 A73G A263G 309.1C 315.1C T334C T489C C572- 573.1C 573.2C A750G A1438G G1462T G1598A A2706G G3591A A4769G G5252A G5460A C6200T G6755A C7028T A8701G A8860G T9540C A9689G C9902T A10398G C10400T T10873C A11015G G11719A G11778A G11914A C12705T C14766T T14783C G15043A G15301A A15326G C15349T C16111T C16223T A16275G C16327A G16390A 60. JX462718(India-LHON P54) Khan M34a 31-AUG-2013 A73G T146C A263G 309.1C 315.1C C332A A415G T489C C569T A750G A1438G C2247T T2299G A2706G G2831A G3010A A4769G T5108C A6794G C7028T T8404C A8701G A8860G T9540C T10361C A10398G C10400T T10873C A11101G G11719A G11778A T11992C C12705T G13194T T14094C C14766T T14783C G15043A G15301A A15326G A15373G C15651A A15865G C16095T C16223T T16249C T16359C 61. JX462719(India-LHON P55) Khan R7a1 31-AUG-2013 A73G T195C A263G 309.1C 315.1C A750G A1438G G1442A A1722G A1790G C2247T A2706G G2719A A4769G T6248C C7028T T7870C A8860G A9051G T9110C G10143A A10289G T10915C G11719A G11778A G12406A A13105G T13404C T13674C T13830C C14766T A15326G G15346A T15586C C16260T C16261T G16319A T16362C 62. JX462720(India-LHON P56) Khan M3 31-AUG-2013 A73G T204C A263G 315.1C T482C T489C A750G A1438G T2545G A4769G A4970G T5201C C7028T A8701G A8860G T9540C A10398G C10400T T10873C G11719A G11778A C12705T T12922G T14783C G15043A A15054T G15301A A15326G T16126C 63. JX462722(India-LHON P58) Khan M3c1a 31-AUG-2013 A73G T152C A263G 315.1C T482C T489C A750G A1438G A2438T A2706G A4769G C7028T A7424G A8701G A8860G G9064A T9540C G10365A A10398G C10400T T10632C T10873C G11719A G11778A C12705T A14440G C14766T T14783C G15043A T15097C G15301A A15326G T16189C C16223T C16294T 64. JX462723(India-LHON P59) Khan R8a1a 31-AUG-2013 A73G T195C A263G 309.1C 315.1C G709A A750G A1438G A2706G A2755G A3384G A4769G A5510G C5911T C7028T T7759C A8860G C9449T T9716C G11719A G11778A G12007A T13215C C13782T A13956G C14766T C15315T C16223T 65. JX462727(India-LHON P63) Khan R7a 31-AUG-2013 A73G T146C A263G 309.1C 309.2C 315.1C A750G A1438G G1442A A2706G A4769G G5744A T6248C C7028T T7870C A8860G A9051G T9110C G10143A A10289G T10915C A11467G G11719A G11778A A13105G T13404C T13830C C14766T A15326G G15346A A16170G C16260T C16261T T16311C G16319A T16362C 66. JX462728(India-LHON P64) Khan M5 31-AUG-2013 A73G A263G 315.1C T489C A750G A1438G A1790G A1829G G1888A A2706G C3921T A4769G G6260A C7028T G7521A T8412C A8701G A8860G G9196A T9540C A10097G A10398G C10400T T10873C G11719A G11778A G12007A T12351C C12705T G12730T G14323A C14766T T14783C G15043A G15301A T15313C A15326G C16082T G16129A C16223T A16300G 67. JX462729(India-LHON P65) Khan M2b1 31-AUG-2013 A73G T152C C182T T195C A200C A263G 309.1C 309.2C 315.1C C447G T489C A750G A1438G A1453G T1780C A1829G A2706G G2831T C3630T A4769G T5420C G5746A G6260A A6647G C7028T A8502G A8701G A8860G T9540C T9899C A10398G C10400T T10873C A11083G G11719A G11778A C12705T T13354C A14059G C14766T T14783C G15043A G15301A A15326G T15670C C16104T 16169.1C A16182- A16183- T16189C 16193.1C 16193.2C C16223T G16274A G16319A C16320T 68. JX462733(India-LHON P69) Khan M3c1b 31-AUG-2013 A73G T146C T152C A263G 309.1C 315.1C T482C T489C A750G A1438G A2706G A4435G A4769G A5474G G6366A C7028T G7598A A8701G A8860G G9064A T9540C C10362T G10365A A10398G C10400T T10873C G11719A G11778A C12705T T13830C A14440G A14587G C14766T T14783C G15043A G15301A A15326G T15573C C16179T C16223T C16294T 69. JX462734(India-LHON P70) Khan R5a2b 31-AUG-2013 A73G T152C A263G 315.1C G1297A G1355A G1380A A1438G A2706G A4769G A5395G C7028T T8594C A8860G A9632G A10754G A11293G G11719A G11778A A11923G T13635C G14544A C14766T C14990T A15326G C15385T A16254G C16266T T16304C T16356C A16524G 70. JX462735(India-LHON P71) Khan R5a2 31-AUG-2013 A73G T152C A263G 309.1C 309.2C 315.1C A750G A1117G A1438G A2706G A4769G T6681C C7028T G7762A T8594C A8860G T10915C A11293G G11719A G11778A A12046T G12561A T13635C G14040A A15326G C15385T C15620T C16266T T16304C C16354T A16524G 71. JX462736(India-LHON P72) Khan M39 31-AUG-2013 55.1T T58A T59- T60- 65.1T 65.2T G71- A73G A93G A153G A234G A263G 309.1C 315.1C T485C T489C A750G A1438G A1811G A2706G A4769G C7028T A8679G A8701G A8860G T9540C A10398G C10400T T10873C G11719A G11778A C12705T C14766T T14783C C15938T C16223T T16445C 72. JX462737(India-LHON P73) Khan R30b 31-AUG-2013 A73G A263G 309.1C 315.1C A373G A750G A1438G A1829G A2706G A4769G C4931T A5771G C6290T C7028T C7280T A7843G G8584A A8860G T10481C G11719A G11778A A13539G T14000A A14233G C14766T T14783C G15148A A15326G T16093C A16181G C16292T C16355T 73. JX462738(India-LHON P74) Khan M10a2 31-AUG-2013 A73G A263G 309.1C 315.1C T489C C516G 573.1C G709A A750G A1438G A2706G 3172.1C C4140T A4769G C7028T A7250G A8701G T8793C G8856A A8860G T9540C A10398G C10400T G10646A T10873C G11719A G11778A C12549T C12705T A13152G T14502C C14766T T14783C G15043A C15050T T15071C A15218G C15302T A15326G A16066G T16217C C16223T T16311C 74 JX508849(India-LHON P76) Khan M 31-AUG-2013 A73G T152C A235G A263G 309.1C 315.1C T489C A750G A2706G A4769G A5474G T6044C A6266G C7028T T7759C G8251A A8701G A8860G T9540C A10398G C10400T T10873C G11719A G11778A G12372A C12705T C14766T T14783C G15043A G15301A A15326G A16037G G16129A C16223T C16261T T16362C T16519C 75. JX508850(India-LHON P77) Khan M5c1 31-AUG-2013 A73G T152C T195C A263G T489C A750G A1438G G1719A G1888A A2706G A4769G C4851T A5319G A6218G T6413C G6917A C7028T A7055G G7853A G8392A G8557A A8701G G8790A A8860G T9540C A10398G C10400T T10873C G11719A G11778A C12705T T12811C C14766T G15043A G15301A A15326G G15884A G16129A A16182- A16183- T16189C 16193.1C 16193.2C T16325C T16519C 76. JX508851(India-LHON P78) Khan M35b 31-AUG-2013 A73G T204C A263G 309.1C 315.1C T489C A567G A750G A1438G A2706G G3438C A4769G C7028T A8116G A8701G T8757C A8860G T9540C T9861C A10398G C10400T T10873C G11719A G11778A G12561A C12705T G13145A A13801G C14766T T14783C G15043A G15301A A15326G G15928A A16051G T16093C C16223T T16304C T16519C 77. KT726046(Tibet) Kang M9a1a2 17-AUG-2016 A73G A153G A263G T489C A750G A1041G A1438G A2706G T3394C G4491A A4769G C7028T C7256N A8701G A8860G G9305A T9540C A10398G C10400T T10873C G11719A G11778A C12705T T14308C C14766T T14783C G15043A G15301A A15326G G16145A C16223T C16234T A16316G T16362C 78. KT726091(Tibet) Kang M9a1a2 17-AUG-2016 A73G A153G A263G T489C A750G A1041G A1438G A2706G T3394C G4491A A4769G C7028T C7256T A8701G A8860G G9305A T9540C A10398G C10400T T10873C G11719A G11778A C12705T T14308C C14766T T14783C G15043A G15301A A15326G G16145A C16223T C16234T A16316G T16362C 79. KT726095(Tibet) Kang M9a1a2 17-AUG-2016 A73G A263G T489C A750G A1438G A2706G T3394C G4491A A4769G C7028T A8701G A8860G G9305A T9540C A10398G C10400T T10873C G11719A G11778N C12705T T14308C C14766T T14783C G15043A G15301A A15326G G16145N C16223T C16234T A16316N T16362C 80. KX146833(India-LHON) Khan M35a 20-SEP_2016 A73G C150T T199C A263G T482C T489C A750G A1438G A2706G A4769G A5432G C7028T A8701G A8860G A9181G T9540C A10398G C10400T C10670T T10873C G11719A G11778A G12561A C12705T A13887G T13994C C14766T T14783C G15043A G15301A A15326G A15924G T16093C C16223T C16278T A16318G C16429T 81. KX146834(India-LHON) Khan M45a 20-SEP_2016 A73G G143A T146C T152C C194T A263G T489C A750G A1438G A2706G C4616T A4734G A4769G A5139C C7028T A7049G A8701G A8860G A9180G T9540C A10398G C10400T T10873C G11719A G11778A G12007A C12705T T14212C C14766T T14783C G15043A G15119A G15301A A15326G T16189C C16223T A16300G 82. KX146835(India-LHON) Khan C 20-SEP_2016 A73G A263G T489C A750G A1438G A2706G T3552A A4026G T4216C A4715G A4769G C7028T C7196T G8152A G8584A A8701G A8860G T9540C A9545G A10398G C10400T T10873C C11533T G11719A G11778A G11914A C12705T A13263G C14697T T14783C G15043A G15301A A15487T A16207G A16309G A16318T T16519C 83. KX457432(Thailand-Laos) Kutanan M9a5 28-NOV-2016 A73G C150T A153G A263G 309.1C 315.1C A385G T489C A750G A1438G A2706G T3394C G4491A A4769G C7028T G8155A A8701G A8860G T9540C A10398G C10400T T10873C G11719A G11778A C12237T C12705T T14308C C14766T T14783C G15043A G15301A A15326G C16148T C16223T C16234T C16355T T16356C T16362C

GenBank Sequences with LHON mutation T14484C

EUROPEAN: 1. AY195754.2(Caucasian) Mishmar J1c1 10-JUN-2004 A73G G185A G228A A263G C295T 309.1C 315.1C C462T T482C T489C A750G A1438G A2706G G3010A T3394C T4216C A4769G C7028T A8860G A10398G A11251G G11719A A12612G G13708A T14484C C14766T T14798C A15326G C15452A C16069T T16126C G16213A 2. AY195778.2(Caucasian) Mishmar J2b1a3 10-JUN-2004 A73G C150T T152C A263G C295T 315.1C T489C A750G A1438G A2706G T4216C A4769G C5633T C7028T C7476T A8860G G10172A A10398G T10966C A11251G G11719A A12612G G13708A T14484C T14488C C14766T G15257A A15326G C15452A G15812A C16069T T16126C C16193T A16265C C16278T 3. AY714043(India) Palanichamy W3a1 04-OCT-2006 A73G T146C A189G C194T T195C T204C G207A A263G 309.1C 315.1C G709A A750G T1243C T1406C A1438G C2389T A2706G A3505G A4769G G5046A G5460A C7028T G8251A T8477G A8860G G8994A T10245C C11674T G11719A A11947G T12414C C12705T A13263G T14484C C14766T A15326G C15490T T15784C G15884C C16223T C16292T T16297C T16519C 4. AY882393(Italy) Achilli-Rengo U8b1 15-APR-2005 A73G T146C T195C A263G 315.1C C522- A523- A750G A1438G A1811G A2706G G3531A A4769G C6546T A6599G C7028T A8860G T9012C G9055A T9111C A9324G T9698C G9948A T10084C A11467G G11719A G11914A A12308G A12358G G12372A G12771A C14167T T14484C C14766T A15326G A16066G G16129A A16183- T16189C 16193.1C C16234T T16311C T16519C 5. EF657594 mtDNA426(Europe) Herrnstadt H3c 14-JUL-2007 A750G G1211A A1438G A4769G G6261A T6776C G7444A A8860G T12957C G14305A T14484C A15326G 6. EU915478 Pello J1b1a 12-DEC-2008 A73G T146C T152C C242T A263G C295T 315.1C C462T T489C A750G T789C A1438G C2025Y T2158C A2706G G3010A T4216C A4769G G5460A C7028T G8269A G8557A A8860G A10398G G10427A A11251G G11719A G12007A A12612G G13708A T13743C T13879C T14484C C14766T A15326G C15452A C16069T T16126C G16145A T16172C C16222T C16261T 7. EU915479 Pello J1c2 12-DEC-2008 A73G G185A A188G A263G C295T 309.1C 315.1C C462T T489C A723R A750G A1438G A2706G G3010A T4216C A4769G C7028T T7042C C8727T A8860G A10398G A11251G G11719A A12612G G13708A G14279A T14484C C14766T T14798C A15326G C15452A C16069T T16126C T16362C G16390A 8. GU296566(Czech) Malyarchuk U5b1b1e 04-MAY-2010 A73G C150T A263G 315.1C A750G A1438G A2706G T3197C A4769G A5656G C7028T A7385G A7768G T8610C A8860G G9477A T10927C A11467G G11719A A12308G G12372A G12501A G12618A T13617C G13928A T14182C T14484C C14766T A15326G T16189C C16192T C16270T 9. GQ304748 Ghelli V 20-DEC-2009 T72C A263G 309.1C 309.2C 315.1C A750G A1438G A2706G G4580A A4769G C7028T A8860G A9254G A9368G G9932A T14484C A15326G C15904T C16261T T16298C T16519C 10. JQ702403 Behar U4a2a 07-APR-2012 A73G T195C G203A A214G A263G T310C G499A T629C A750G A1438G A1811G A2706G T4646C A4769G T5999C A6047G C7028T C8818T A8860G C11332T A11467G G11719A A12308G G12372A T14484C C14620T C14766T T14788C A15326G T15693C T16519C 11. JQ703759 Behar H1a3a 07-APR-2012 A73G A263G 309.1C 315.1C A750G A1438G G3010A A4769G A8860G A9275G T12354Y T14484C A14978G A15326G A16051G A16162G T16519C 12. JQ704814 Behar H13a1a 07-APR-2012 A263G 315.1C A750G A1438G C2259T A4745G A4769G A8860G C12061T C13680T T14484C C14770T C14872T A15326G 13. JQ704930 Behar U5a1a1 07-APR-2012 A73G A263G 315.1C A750G C979T A1438G T1700C A2706G T3197C A4769G T5495C C6164T C7028T A8860G G9477A A11467G G11719A A12308G G12372A T13617C T14484C C14766T A14793G A15218G A15326G A15924G C16256T C16270T A16399G 14. JQ705228 Behar U5a2d 07-APR-2012 A73G G228R A263G 309.1C 315.1C C522- A523- A750G A1438G A2706G T3197C A4769G C7028T A7843G C7978T T8104C A8860G T9148C G9477A C11107T T11339C A11467G G11719A A12308G G12372A T13617C T14484C T14577G C14766T A14793G A15326G C16256T C16270T T16311C G16526A 15. JQ705248 Behar H4a1a4b 07-APR-2012 T195C A263G 315.1C C522- A523- A750G A1438G C3992T A4024G A4769G T5004C G8269A A8860G G9123A T9977C A12642G C14365T T14484C G14569A A14582G A15326G G15884A 16. JQ706067 Behar U2d2 07-APR-2012 A73G T152C T199C T204C A385G T471C A750G A1438G T1700C A1811G A2706G 3105.1C C4025T G4092A A4769G G5147A G5460A G5773A T6956C C7028T A8296G A8860G A8938G A11467G G11719A A11893G A12308G G12372A A12397G T13789C T14484C C14766T A14926G A15326G A16051G A16183- T16189C 16193.1C C16234T C16294T T16519C 17. JX120742(Spain) Secher U6d2 31-MAY-2013 A73G A263G 315.1C A750G A1438G A2706G A3348G T4336C A4769G C7028T A8860G A10397G A11467G G11719A A11947G A12308G G12372A G12501A A12530G T14484C A14518G C14766T A15326G T16172C C16174T C16188T A16219G T16311C 18. JX462690(India-LHON P26) Khan U 31-AUG-2013 A73G C194T A263G 309.1C 315.1C A750G A1438G A1811G A2706G G3316A G3563A G3705A A4769G A6116G A6530G C7028T G7859A A8860G A9180G A11467G G11719A A12310G G12372A G13708A T14484C C14766T A14882C A15326G A16051G A16206C A16230G T16311C 19. JX462699(India-LHON P35) Khan I1 31-AUG-2013 A73G T199C T204C T250C A263G 309.1C 315.1C 455.1T 573.1C A750G A1438G G1719A A1790G A2706G G3563A A4529T A4769G T5108C G6734A C7028T G8251A C8274A 8276.1C 8276.2C 8276.3C 8276.4C 8276.5C 8276.6C 8276.7C 8276.8C 8276.9C A8860G A9194G G9966A T10034C T10238C A10398G T11437C G11719A C12705T A13780G T14484C A15924G G16129A C16223T T16311C G16391A 20. KF162004(Denmark) Li H1 01-OCT-2013 A263G C308T C309- 315.1C A750G A1438G G3010A A4769G A8860G T9017C T14484C A15326G A16182- A16183- C16185N T16189C 16193.1C 16193.2C T16519C 21. JX153752(Denmark) Raule H2a1 10-JAN-2014 T152C A263G 309.1C 309.2C 315.1C A750G G951A A8860G G13759A T14484C A15133G A15326G C16193T C16354T 22. KJ937089(Armenian) FTDNA I1b 11-JUN-2014 A73G T152C T199C T250C A263G 315.1C 455.1T 573.1C 573.2C A750G A1438G G1719A T2222C A2706G A4529T A4562G A4769G T6227C C6230T G6734A C7028T G8251A A8860G G9966A T10034C T10238C A10398G T11305C G11719A G12501A C12705T A13780G T14484C C14766T G15043A A15326G T15514C A15924G G16129A C16223T T16311C G16391A T16519C 23. KT901801(cybrid) Gomez-Duran J2a2c 26-DEC-2015 A73G C150T T195C A263G C295T T310Y T489C A750G A1438G A2706G T3572Y T4216C A4769G T6671C C7028T G7269A C7476T A8860G A10398G A10499G A11002G A11251G G11377A G11719A A12570G A12612G G13708A T14484C G14569A C14766T G15257A A15326G C15452A A15679G C16069T T16126C T16231C 24. KY408172(Italy: Sardinia) Olivieri U5a1a1 10-MAR-2017 A73G G185A T195C A263G A301N-T318N A750G A1438G T1700C A2706G T3197C A4769G T5495C C7028T A8860G G9477A A11467G G11719A A12308G G12372A T13617C T14484C C14766T A14793G A15218G A15326G A15924G C16192T C16256T C16270T A16399G ... 23andMe('Max Alginin'-hu9D78A5) H5 263G 456T 750G 1438G 4769G 8860G 9110C 10310A 14484C 15110A 15326G 16304G ASIAN/AFRICAN: 1. AP008873 JDsq0055(Japanese) Tanaka N9a2c 16-JUL-2005 A73G C150T T195C A263G 309.1C 309.2C 315.1C A750G T961C A1438G A2706G A4769G G5231A G5417A C7028T A8860G T9750C G10685A G11719A A12358G G12372A C12705T A13857G T14484C C14766T T15067C A15326G T16172C C16223T C16250T C16257A C16261T 2. DQ112719.2(Dominican Rep) Kivisild L3e1e 18-OCT-2006 A750G A1438G T2352C A2706G A4769G T5774A T6221C C6587T C7028T A8701G A8860G A9254G T9540C T10370C A10398G A10819G T10873C C11024T G11719A C12705T A14152G T14212C T14484C G14569A C14766T G15301A A15326G T15670C T15942C 3. EF061146(PNG) Friedlaender Q3b 28-FEB-2007 A73G A263G 309.1C 315.1C T489C A750G A1438G A2706G T4117C C4335T A4769G G5460A A5843G C7028T A8454G A8701G G8790A A8860G A9254G T9540C A10398G C10400T A10750G T10873C G11719A G12684A C12705T G12940A T13500C T14484C C14766T T14783C G15043A G15172A G15301A A15326G G16129A C16223T A16241G T16249C T16311C T16362C 4. EU431088(Canada) Achilli D1 01-AUG-2008 A73G A263G 309.1C 309.2C 315.1C T489C 523.1C 523.2A A750G A1438G C2092T A2706G G3010A A4769G C4883T C5178A C7028T C8414T A8701G A8860G T9540C A10398G C10400T T10873C G11719A C12705T T14484C C14668T C14766T T14783C G15043A G15301A A15326G G15930A C16223T T16325C T16362C 5. FJ986465 Yang B4d1 16-JUN-2009 A73G G185A A189G A263G T489C A750G A827G A1438G A2706G A4769G C7028T C8281- C8282- C8283- C8284- C8285- T8286- C8287- T8288- A8289- A8860G G10680A G11719A G11914A C13449T A13942G C14239T T14484C C14766T A15038G A15326G C15535T G15930A T16189C T16217C T16519C 6. HM460791(LHON) Yu M8a 13-NOV-2010 A73G T146C A263G 315.1C T489C A750G A1438G A2706G A4715G A4769G C5100T G6179A C7028T A7076G C7196A G8584A C8684T A8701G A8860G C9371T T9540C A10398G C10400T T10873C G11719A C12705T T13488C T14470C T14484C C14766T T14783C G15043A G15301A A15326G A15487T T16086C C16184T C16223T T16298C G16319A 7. HM460792(LHON) Yu G1a1 13-NOV-2010 A73G C150T A263G 315.1C T489C G709A A750G A1438G A2706G T3336C A4769G A4833G T5108C C7028T C7750T C7867T T8200C A8701G A8860G T9540C A10398G C10400T T10873C G11719A C12705T T14484C G14569A C14766T T14783C G15043A G15301A G15323A A15326G A15442G G15497A A15769G A15860G C16223T T16325C T16362C A16463G T16519C 8. HM460793(LHON) Yu G2a1 13-NOV-2010 A73G A263G 309.1C 315.1C T489C G709A A750G A1438G A2706G A4769G A4833G T5108C C5601T C7028T G7600A T8087C A8701G A8860G A9377G T9540C G9575A A10398G C10400T T10742C T10873C G11719A C12705T A13563G A14071G T14200C T14484C G14569A C14766T T14783C G15043A G15301A A15326G T16086C G16129A C16223T C16278T T16362C T16368C G16526A 9. HM460794(LHON) Yu G2a1 13-NOV-2010 A73G A263G 309.1C 309.2C 315.1C T318C T489C G709A A750G A1438G A2706G A4769G A4833G T5108C C5601T C7028T G7600A A8701G A8860G A9377G T9540C G9575A A10398G C10400T T10873C G11719A G12070A C12705T A13563G T14200C T14484C G14569A C14766T T14783C G15043A G15301A A15326G C16176T C16223T A16227G C16278T A16293C C16294Y T16362C 10. HM460795(LHON) Yu D5a2a1 13-NOV-2010 A73G C150T A263G 315.1C T489C A750G C752T T1107C A2581G A2706G G4491A A4769G C4883T C5178A A5301G C7028T A8701G A8860G A9180G T9540C A10397G A10398G C10400T T10873C G11719A T11929C T11944C A12026G C12705T T14484C C14766T T14783C G15043A G15301A A15326G T16092C A16164G T16172C A16182- A16183- T16189C 16193.1C 16193.2C C16223T C16266T T16311C T16362C 11. HM460796(LHON) Yu D5a2a1 13-NOV-2010 A73G C150T T152C A263G 309.1C 315.1C T489C C522- A523- G709A A750G C752T T1107C A2706G A4769G C4883T C5178A A5301G C7028T A8701G A8860G A9180G T9540C T9977C A10397G A10398G C10400T T10873C G11719A T11944C A12026G C12705T T13356C T14484C C14766T T14783C G15043A T15191C T15262C G15301A A15326G T16131A A16164G T16172C A16182- A16183- T16189C 16193.1C 16193.2C C16223T C16266T T16362C 12. HM460797(LHON) Yu D5c 13-NOV-2010 A73G C150T C151T T152C A263G 309.1C 309.2C 315.1C T489C A750G T1107C A1438G A2706G A4200T T4216C A4769G C4883T C5178A A5301G C7028T A7129G C7669T C8580T A8701G A8860G T9540C A10397G A10398G C10400T T10873C G11719A T12696C C12705T A12810G T13260C C13984T T14484C C14766T T14783C A14927G G15043A G15301A A15326G T15622C G15737A 16188.1C 16193.1C C16223T T16311C A16316G T16356C T16362C 13. HQ260970(LHON) Yu Y2 13-NOV-2010 A73G A263G 315.1C T482C C522- A523- A644G A750G A1438G A2706G A4769G A4944G G5147A G5417A T6941C C7028T G7859A G8392A A8860G A10398G G11719A C12705T T13174C T14178C T14484C A14693G C14766T A14914G A15244G A15326G T16126C T16231C T16311C 14. HQ260971(LHON) Yu C4a 13-NOV-2010 A73G A249- A263G 315.1C T489C A750G A1438G 2232.1A A2706G T3552A A4715G A4769G T5082C C5846T G6026A C7028T C7196A T7999C G8584A A8701G A8860G T9137C T9540C A9545G A10398G C10400T T10873C G11719A G11914A G11969A A12672G C12705T A13263G T14318C T14484C C14766T T14783C G15043A T15204C G15301A A15326G A15487T G16129A C16192T C16223T T16298C C16327T T16519C 15. HQ260972(LHON) Yu M10a1a 13-NOV-2010 A73G A263G 309.1C 315.1C T489C C522- A523- 573.1C 573.2C 573.3C G709A A750G A1438G A2706G T3083C 3172.1C A3397G C4140T A4769G C7028T A7250G C7948T A8701G T8793C G8856A A8860G A9494G T9540C A10398G C10400T G10646A T10873C G11719A C12549T C12705T G13135A A13152G C14337T T14484C T14502C C14766T T14783C C15040T G15043A T15071C A15218G G15301A A15326G T16093C G16129A C16223T T16311C T16357C A16497G 16. HQ260973(LHON) Yu G2b2 13-NOV-2010 A73G G143A T204C A263G 315.1C T489C G709A A750G A1438G A2706G A4388G A4769G A4833G T5108C C5601T A6932G C7028T A8701G A8860G T8877C C9168T T9540C A10398G C10400T T10873C G11719A C12705T A13434G A13563G G13708A T14484C G14569A C14766T T14783C G15043A G15301A A15326G G15346A G15930A C16223T C16260T C16291T T16362C T16519C 17. JN133516(China - LHON) Guo F1g 30-JUN-2012 A73G A249- A263G 309.1C 309.2C 315.1C C522- A523- A750G A1438G C2389T A2706G T3398C C3970T A4769G T6392C G6962A C7028T A8860G G10310A T10609C G11719A G12406A C12882T G13928C T14484C C14766T A15326G A16183- T16189C 16193.1C T16304C T16519C 18 KC533464(South Africa) van der Walt L2a1 06-MAY-2013 A73G C150T G185A A189G A263G 309.1C A750G A1438G A2706G A4769G A5285G C7028T T7175C C7256T C7274T G7521A A7771G G8206A A8701G A8860G A9221G T9540C T10115C A10398G T10873C G11719A G11914A T11944C A12693G C12705T G13590A A14152G T14212C T14484C C14766T G15301A A15326G T15629C T15784C C16185T C16223T C16294T A16309G T16519C 19. JX462682(India-LHON P18) Khan F1c1 31-AUG-2013 A73G T152C A234G A249- A263G 315.1C A750G A1438G G1927A A2706G T3258C C3970T A4769G A5429G A6047G C6377T T6392C A6599G G6962A C7028T A8860G G9053A G10310A A10398G T10454C T10609C G11719A G12406A C12882T G13759A G13928C T14484C A14526G C14766T A14776G T14783C A15326G C16223T T16304C T16519C 20. JX462688(India-LHON P24) Khan M31a 31-AUG-2013 A73G C150T T195C A263G 315.1C T489C A750G A1438G 2156.1A A2706G T2857C G3563A T3999C A4769G A4775G T4907C C7028T A8701G A8860G T9540C T10084C A10398G C10400T T10873C A11023T G11176A G11719A C12705T C12876T T14484C A14526G C14766T A14776G T14783C G15043A A15258G G15301A A15326G T15440C T15530C A15924G G16145A C16223T C16520T 21. JX462697(India-LHON P33) Khan M11 31-AUG-2013 A73G A215G A263G 315.1C T318C T489C A750G A1438G A2706G T4254C A4769G 5740.1A A6485T T6620C C7028T A8701G A8860G T9540C A10398G C10400T T10873C G11447A G11719A A11824G C12705T G13590A T13879C C14058T T14484C C14766T T14783C G15043A G15301A A15326G G16129A C16223T T16311C T16362C 22. JX462705(India-LHON P41) Khan M6 31-AUG-2013 A73G T195C A263G 309.1C 315.1C 455.1C C459- C461T T489C T593C A750G A1438G A2706G T4418C A4769G A5301G A5558G C6746T C7028T A8701G A8860G T9540C T9758C G10310A A10313G A10398G C10400T T10640C T10873C G11719A C12705T A14128G T14484C C14766T T14783C G15043A G15301A A15326G C16223T T16362C 23. JX462712(India-LHON P48) Khan M3a1 31-AUG-2013 A73G A263G 309.1C 315.1C T482C T489C A750G A1438G A2706G G2831A G4580A T4703C A4769G C7028T A8701G A8860G T9540C T9924G A10398G C10400T T10873C G11719A C12705T C12828T T12842C T13543A T14484C C14766T T14783C G15043A G15301A A15326G T16126C C16223T 24. JX462715(India-LHON P51) Khan R30a 31-AUG-2013 A73G A263G 309.1C 315.1C A750G A1438G G2056A A2706G G3316A T4232C T4733C A4769G T5442C G6764A C7028T G8584A A8860G A9156G A9242G C11047A G11719A C11735T G12583A T12714C T14484C C14766T T15055C A15931T T16209C C16256T T16519C 25. KF672819(Mozambique Moz296) Rito L0a2a2a 19-NOV-2013 C64T A93G T152C A189G T199C T204C G207A T236C G247A A263G C522- A523- A750G G769A T825A G1018A C1048T A1438G A2245G A2706G G2758A T2885C A3397G C3516A C3594T A4104G C4312T T4586C A4769G G5147A G5231A T5442C G5460A C5603T A5711G T6185C G6257A C7028T A7146G C7256T G7521A C8281- C8282- C8283- C8284- C8285- T8286- C8287- T8288- A8289- C8428T A8460G C8468T A8566G C8655T A8701G A8860G C9042T A9347G T9540C A9545G G9554A G9755A C9818T A10398G G10589A C10664T G10688A T10810C T10873C T10915C C11143T A11172G G11176A A11641G G11719A G11914A G12007A C12705T A12720G A13105G C13116T A13276G C13506T C13650T T14308C T14484C A14755G C14766T C15136T A15326G G15431A C16148T T16172C C16187T C16188G T16189C C16223T A16230G T16311C C16320T T16519C "; break;}

GenBank Sequences with LHON mutation G3460A

EUROPEAN: 1. AY739000(Italy) Achilli H 13-APR-2007 A263G 309.1C 315.1C A750G A1438G G3460A T3786C A4769G A8860G C11536T A15326G T16519C 2. DQ341083(LHON Italy) Carelli H12 20-MAR-2006 T195C A263G A750G A1438G G3460A C3936T A4769G A8860G A14552G A15326G G16274A T16519C 3. DQ341084(LHON Italy) Carelli H12 20-MAR-2006 T195C A263G A750G A1438G G3460A C3936T A4769G A8860G A14552G A15326G G16274A T16519C 4. DQ489527 Hinttala J1c5 06-NOV-2006 A750G A1438G A2706G G3010A G3460A T4216C A4769G A5198G T6681C C7028T A8860G A10398G T11087C A11251G G11719A C12239T A12612G G13708A G14364A C14766T T14798C A15326G C15452A 5. EF060364.2(LHON Italy) La Morgia U4a3 20-AUG-2009 A73G T195C G247A A263G 309.1C 315.1C G499A 523.1C 523.2A 523.3C 523.4A 523.5C 523.6A 523.7C 523.8A A750G A801G A1438G A1811G A2706G A2792G G3460A T4646C A4769G T5999C A6047G C6665T A6929G C7028T G8065A C8818T A8860G C11332T A11467G G11719A A12308G G12372A C14620T C14766T A15326G T15693C G15773A T16356C T16362C T16519C 6. EF657323 mtDNA182(Europe) Herrnstadt H5a1 14-JUL-2007 A750G A1438G G3460A T4336C A4769G A8803T A8860G A15326G C15833T 7. EU915474 Pello H* 12-DEC-2008 A263G 309.1C 315.1C A750G A1438G G3460A T3786C A4769G A8860G C11536T A15326G T16519C 8. EU915475 Pello H12 12-DEC-2008 T195C A263G A750G A1438G G3460A C3936T A4769G A8860G A14552G A15326G G16274A T16519C 9. GQ304742(cybrid) Ghelli T1a1 20-DEC-2009 A73G T152C A263G 309.1C 315.1C G709A A750G A1438G G1888A A2706G G3460A T4216C A4769G A4917G C7028T G8697A A8860G T9899C T10463C A11251G G11719A C12633A G13368A C14766T G14905A A15326G C15452A A15607G G15928A T16126C A16163G C16186T T16189C C16294T T16519C 10. JX401416(Spain-LHON) Martinez-Romero J1c2e 05-SEP-2012 A73G G185A A188G G228A A263G C295T 309.1C 315.1C C462T T489C C522- A523- G709A A750G A1438G A2706G G3010A G3460A T4216C T4232C A4769G C7028T T8404C A8860G A11251G G11719A T12131C A12612G G13708A G14198A C14766T T14798C A15326G C15452A C16069T T16126C C16278T C16366T T16519C ASIAN: 1. EU482373(Evenki) Volodko D5a2c 28-NOV-2008 A73G C150T A263G 309.1C 315.1C T489C C522- A523- A750G C752T T1107C A2706G G3460A A4769G C4883T C5178A A5301G C7028T A8479G A8701G A8860G A9180G T9540C A10397G A10398G C10400T T10873C G11719A T11944C A12026G C12705T C14766T T14783C G15043A G15301A A15326G T16092C T16172C A16182- A16183- T16189C 16193.1C 16193.2C C16223T C16266T T16362C 2. EU828637(Tuvan-LHON) Starikovskaya C5c 28-JUN-2008 A73G A249- A263G 315.1C T489C 595.1C A750G G1415A A1438G A2706G G3460A T3552A A4715G A4769G C7028T C7196A A8188G G8584A A8701G A8860G T9540C A9545G A10398G C10400T T10873C G11719A G11914A C12705T A13263G T14318C C14766T T14783C G15043A A15080G G15301A A15326G A15487T T16093C C16223T T16288C T16298C C16327T G16390A T16519C 3. GQ999958(LHON China) Yu F2 08-JUL-2010 A73G T195C A249- A263G 315.1C A750G T1005C A1438G T1824C A2706G G3460A C3970T A4769G T6392C C7028T A7828G A8860G G9612C A10005G G10310A T10535C G10586A G11696A G11719A T12338C G13708A G13928C A14002G G14560A C14766T A15326G T15862C T16304C 4. GQ999959(LHON China) Yu D4b2b2 08-JUL-2010 A73G C194T A263G 309.1C 315.1C T489C C522- A523- A750G A1382C A1438G A2706G G3010A G3460A A4769G C4883T C5178A C7028T G8020A C8414T A8577G A8701G A8860G C8964T C9296T T9540C T9824A A10398G C10400T T10873C G11719A A12358G C12705T C14668T C14766T T14783C G15043A G15301A A15326G T16172C T16362C T16519C 5. GQ999960(LHON China) Yu B4d1 08-JUL-2010 A73G A263G 309.1C 309.2C 315.1C G316A A750G A827G A1438G A2706G G3460A G4092A A4769G T6413C C7028T C8281- C8282- C8283- C8284- C8285- T8286- C8287- T8288- A8289- T8450C A8745G A8860G G11719A G11914A A13942G C14766T A15038G A15326G C15535T G15930A A16183- T16189C 16193.1C T16217C C16291T T16519C 6. GQ999961(LHON China) Yu M12a 08-JUL-2010 A73G T125C T127C C128T G228A A263G 315.1C T318C T489C G513A C522- A523- A750G A1438G A2706G G3460A T3866C G4048A C4170T A4769G G5460A T5580C C7028T A8701G A8860G C9423T C9490T T9540C A10398G C10400T T10873C G11719A A12030G A12358G G12372A C12705T G14569A T14727C C14766T T14783C A15010G G15043A G15301A A15326G A15463G C15651T C16223T C16234T C16290T A16309G T16362C 7. GQ999962(LHON China) Yu A5 08-JUL-2010 A73G A235G A263G 315.1C C522- A523- A663G A750G T961C 965.1C A1438G G1709A A1736G A2706G G3460A T4248C A4769G A4824G C7028T A8563G C8794T A8860G A11172G C11536T G11719A C12705T C14766T A15326G T16126C C16223T A16235G C16290T G16319A T16519C 8. GQ999963(LHON China) Yu D4b2 08-JUL-2010 A73G A263G 315.1C T319C T489C C522- A523- A750G A1382C A1438G A2706G G3010A G3460A G4655A A4769G C4883T C5178A A5600G C7028T G8020A C8414T A8701G A8860G C8964T T9540C T9824A A10398G C10400T T10858C T10873C G11719A A12172G C12705T C14668T C14766T T14783C G15043A G15301A A15326G T16172C C16223T T16362C 9. FJ147319(Russia-LHON) Mazunin D4a 01-JUL-2010 A73G T195C C198T A263G 309.1C 315.1C T489C A750G A1438G A2706G G3010A G3460A A4769G C4883T C5178A C7028T C8414T A8701G A8860G T9540C A10398G C10400T T10873C G11719A C12705T C14668T C14766T T14783C G15043A G15106A G15301A A15326G C16223T T16362C www.mitomap.org suggests there are 11 further LHON mutations that come next in frequency: G3635A G3700A G3733A C4171A T10663C G14459A C14482A C14482G A14495G T14502C C14568T

GenBank Sequences with LHON mutation G3635A

1. EU807741(Siberia-LHON) Brown J2b1c1 16-JUN-2008 A73G C150T T152C A263G C295T T489C C522- A523- A750G A1438G A2706G G3635A T4216C A4769G C5633T C7028T C7476T T8551C A8860G G10172A C10362T A10398G A11251G G11719A G12070A A12612G G13708A T13899C C14766T G15257A A15326G C15452A G15812A C16069T T16126C C16193T C16286T G16319A 2. FJ969382(China-LHON) Yang R11a 01-JUL-2009 A73G G185A A189G A263G G709A A750G A2706G G3635A A4706G A4769G A5033G C7028T C7868T 8276.1C 8276.2C 8276.3C T8277C A8860G C9071T T10031C A10398G A10978G C11061T G11719A A12358G A12950G A13681G C14766T A16183- T16189C 16193.1C T16304C T16311C C16365T T16519C 3. FJ969383(China-LHON) Yang D4g2b 01-JUL-2009 A73G T152C A263G 309.1C 309.2C 315.1C T489C A750G A1438G A2706G G3010A G3421A G3635A A4131G A4769G C4883T C5178A G5231A C7028T C8414T A8701G A8860G T9540C A10398G C10400T T10873C G11719A C12705T A13104G C14668T C14766T G15043A G15301A A15326G T16140C A16183- T16189C 16193.1C C16223T T16362C T16519C 4. GQ202273(China-LHON) Zhang M7b6 13-JUL-2009 A73G T131C C150T T199C A263G 309.1C 315.1C T489C A750G A1438G A2706G G3635A G4048A C4071T A4164G A4769G A5351G G5460A 5899.1C C6228T C6455T T6680C C7028T T7684C G7853A A8701G A8860G T9540C T9824C A10232G G10373A A10398G C10400T T10873C G11719A C12405T C12705T T12811C C14766T T14783C G15043A G15301A A15326G C16192T C16223T T16297C 5. JX024564(China-Le131) Bi M7b4 20-JAN-2013 A73G C150T T152C T199C T204C A263G 309.1C 315.1C T489C A750G A1438G A2706G G3483A G3635A G4048A C4071T A4164G A4769G A5351G G5460A C6455T T6680C C7028T T7684C G7853A A8701G A8860G T9540C T9824C A10398G C10400T T10873C G11719A C12405T C12705T T12811C C14766T T14783C G15043A G15301A A15326G C16223T T16297C 6. JX024565(China-Le329) Bi F1a 20-JAN-2013 A73G A249- A263G 315.1C C522- A523- A750G A1438G A2706G G3635A C3970T C4086T T4204C A4769G A5301G T6378C T6392C G6962A C7007T C7028T A8860G G9053A T9770C G10310A T10604C T10609C G11719A G12406A G12771A T12811C C12882T G13759A G13928C T14063C C14766T T15237C A15326G G16129A T16172C T16304C T16519C 7. JX024566(China-Le337) Bi F1a 20-JAN-2013 A73G A249- A263G 315.1C C522- A523- A750G A1438G A2706G G3635A C3970T C4086T T4204C A4769G A5301G T6378C T6392C C6448M G6962A C7007T C7028T A8860G G9053A T9770C G10310A T10604C T10609C G11719A G12406A G12771A T12811C C12882T G13759A G13928C T14063C C14766T T15237C A15326G G16129A T16172C T16304C T16519C 8. JX024567(China-Le569) Bi B5b3 20-JAN-2013 A73G A93G T131C G203A T204C A263G 315.1C T408A C522- A523- G709A A750G A1438G G1598A A2706G G3635A A4769G G5773A C7028T C7256T C8281- C8282- C8283- C8284- C8285- T8286- C8287- T8288- A8289- G8584A G8790A C8829T C9536T T9950C A10398G G11719A A12361G C14766T C15223T A15326G C15508T A15662G A15851G G15927A T16017C T16140C T16154C A16183- T16189C 16193.1C C16234T T16243C C16465T T16519C 9. JX024568(China-Le834) Bi M7b6 20-JAN-2013 A73G T131C C150T T199C A263G 309.1C 309.2C 315.1C T489C A750G A1438G A2706G G3635A G4048A C4071T A4164G A4769G A5351G G5460A 5899.1C C6228T C6455T T6680C C7028T T7684C G7853A A8701G A8860G T9540C T9824C A10232G G10373A A10398G C10400T T10873C G11719A C12405T C12705T T12811C C14766T T14783C G15043A G15301A A15326G C16192T C16223T T16297C

GenBank Sequences with LHON mutation G3700A

1. JN415470(Italy-LHON) Achilli H 19-AUG-2012 T152C A263G 315.1C A750G A1438G G3700A A4769G G8856A A8860G G13759A A15326G C16192T C16261T A16289G T16519C 2. JN415471(Germany-LHON) Achilli H26 19-AUG-2012 A210G A263G 309.1C 309.2C 315.1C C522- A523- A750G A1438G G3700A A4769G A8860G A9545G T11152C A15326G T16519C

GenBank Sequences with LHON mutation G3733A

1. JN415474(Italy-LHON) Achilli H10 19-AUG-2012 A263G 309.1C 309.2C 315.1C A750G A1438G G3733A A4769G A8860G A9091G T14470A A15326G T15889C C16355T T16519C 2. JN415482(Italy-LHON) Achilli X2b 19-AUG-2012 A73G A153G A189G T195C G225A T226C A263G 309.1C 309.2C 315.1C 523.1C 523.2A A750G A1438G G1719A A2706G G3733A T3906C A4769G T6221C C6371T C7028T G7859A C8393T A8860G C8910T A11084G G11719A C12705T G13708A A13966G G14305A T14470C C14766T A15326G G15927A A16183- T16189C 16193.1C 16193.2C C16223T C16278T T16519C Note this sequence has G3733S 3. JN415477(Germany-LHON) Achilli J1c3 19-AUG-2012 A73G G185A T195C G228A A263G C295T 315.1C C462T T489C A750G A1438G A2706G G3010A G3733S T4216C A4769G C4805T C7028T A8860G A10398G A11251G T11254C G11719A A12612G G13145A G13708A C13934T A14296G T14502C C14766T T14798C A15326G C15452A C16069T T16126C G16390A

GenBank Sequences with LHON mutation C4171A

1. FJ944094(China-LHON) Yang N9a1a 28-JUL-2009 A73G C150T A263G 309.1C 309.2C 315.1C A750G A1438G A2706G C4171A T4386C A4769G G5231A G5417A C7028T A8860G G10203A G11719A G12007A C12705T A14564G C14766T A14841G A15095G A15326G C16111T G16129A C16257A C16261T T16519C 2. KF927040(Belarusian-LHON) La Morgia H 03-JUN-2014 A263G 309.1C 309.2C 315.1C A750G A1438G C3798T C4171A T4705C A4769G C5263T A8860G T14180C A15326G T16519C

GenBank Sequences with LHON mutation T10663C

1. JN415484(France-LHON) Achilli L2a1 19-AUG-2012 A73G G143A T146C T152C T195C A263G 309.1C 315.1C A750G G769A G1018A A1438G T2416C A2706G C2789T T2863C T3372C C3594T A4104G A4769G C7028T T7175C C7256T C7274T G7521A A7771G G8206A A8701G A8860G G9053A A9221G T9540C T10115C A10398G T10663C T10873C G11719A G11914A T11944C T12438C A12693G C12705T G13590A C13650T A13803G A14566G C14766T G15301A A15326G T15784C T16189C C16192T C16223T C16278T C16294T A16309G G16390A

GenBank Sequences with LHON mutation G14459A

1. JN415476(Italy-LHON) Achilli J1c3 19-AUG-2012 A73G G185A A189G G228A A263G C295T 315.1C C462T T489C A750G A1438G A2706G G3010A T4216C A4769G C7028T A8860G A10398G A11251G G11719A A12612G G13708A C13934T G14459A C14766T T14798C A15326G C15452A C16069T C16114T T16126C G16145A and in 2 normal sequences: 2. AY195748(N. America) Mishmar D1 10-JUN-2004 A73G A263G 309.1C 315.1C T489C A750G A1438G C2092T A2706G G3010A A4769G C4883T C5178A C7028T C8414T A8701G A8860G T9540C G9966A A10398G C10400T T10873C A11092G G11719A C12705T G14459A C14668T C14766T T14783C G15043A G15301A A15326G C16223T C16291T T16325C T16362C T16519C 3. JQ797836 Pala J1c3 22-MAY-2012 A73G G185A A189G G228A A263G C295T 315.1C C462T T489C A750G A1438G A2706G G3010A T4216C A4769G C7028T A8860G A10398G A11251G G11719A A12612G G13708A C13934T G14459A C14766T T14798C A15326G C15452A C16069T C16114T T16126C G16145A

GenBank Sequences with LHON mutation C14482A

1. JN415478(Italy-LHON) Achilli J1c 19-AUG-2012 A73G G185A A189G G228A A263G C295T 315.1C C462T T489C A750G A1438G A2706G G3010A A3981G T4216C A4769G C7028T T8760C A8860G A10398G A11251G G11719A A12612G G13708A C14482A C14766T T14798C A15326G C15452A C16069T T16126C C16261T 2. JN415483(Germany-LHON) Achilli I5a 19-AUG-2012 A73G C150T T199C T204C T250C A263G 309.1C 315.1C 573.1C 573.2C 573.3C 573.4C 573.5C A750G A1438G G1719A A2706G A4529T A4769G T5074C G5231A T6278C C7028T G8251A A8860G C9190T T10034C T10238C A10398G G11719A C12073T G12501A C12705T A13780G A14233G C14482A C14766T G15043A A15052G A15326G G15883A A15924G G16129A C16148T C16223T C16301T G16391A T16519C

GenBank Sequences with LHON mutation A14495G

1. JN415472(Italy-LHON) Achilli H 19-AUG-2012 T195C A263G 315.1C A750G A1438G A2060G A4769G G7337A A8860G A14495G A15326G G16129A C16248T

GenBank Sequences with LHON mutation T14502C

1. HQ260972(LHON) Yu M10a1a 13-NOV-2010 A73G A263G 309.1C 315.1C T489C C522- A523- 573.1C 573.2C 573.3C G709A A750G A1438G A2706G T3083C 3172.1C A3397G C4140T A4769G C7028T A7250G C7948T A8701G T8793C G8856A A8860G A9494G T9540C A10398G C10400T G10646A T10873C G11719A C12549T C12705T G13135A A13152G C14337T T14484C T14502C C14766T T14783C C15040T G15043A T15071C A15218G G15301A A15326G T16093C G16129A C16223T T16311C T16357C A16497G 2. JN415477(Germany-LHON) Achilli J1c3 19-AUG-2012 A73G G185A T195C G228A A263G C295T 315.1C C462T T489C A750G A1438G A2706G G3010A G3733S T4216C A4769G C4805T C7028T A8860G A10398G A11251G T11254C G11719A A12612G G13145A G13708A C13934T A14296G T14502C C14766T T14798C A15326G C15452A C16069T T16126C G16390A and it occurs in 78 other sequences. This mutation is a defining mutation for Haplogroups M10, M11a, N11a, P7, R8b2, X2a

GenBank Sequences with LHON mutation C14568T

1. JN415473(Germany-LHON) Achilli H1c1 19-AUG-2012 A263G 309.1C 315.1C T477C A750G A1438G G3010A A4769G A8860G A9150G C14568T A15326G T16263C T16519C 2. JN415475(France-LHON) Achilli K1a 19-AUG-2012 A73G G103A A263G 309.1C 315.1C C497T A750G T1189C A1438G A1811G A2706G A3480G A4769G C7028T A7202G A7299G A8860G G9055A T9698C A10398G A10550G T11299C A11467G G11719A A12308G G12372A G13759A C14167T C14568T C14766T T14798C A15326G C16176T T16224C A16293G T16311C T16519C 3. JN415479(France-LHON) Achilli J1c2 19-AUG-2012 A73G G185A A188G G228A A263G C295T 309.1C 315.1C C462T T489C C522- A523- A750G A1438G A2706G G3010A T4216C A4769G C7028T A8860G A10398G A11251G G11719A A12612G G13708A C14568T C14766T T14798C A15326G C15452A C16069T T16126C C16366T T16519C 4. JN415480(Germany-LHON) Achilli J1c2 19-AUG-2012 A73G G185A A188G G228A A263G C295T 315.1C C462T T489C A750G A1438G A2706G G3010A T4216C A4769G C7028T A8860G A10398G A11002G A11251G G11719A A12612G A13032G G13708A T14325C C14568T C14766T T14798C A15326G C15452A C16069T T16126C C16186T T16519C and in 2 normal sequences: 5. EU545432.2(Poland) Grzybowski U4a1b 14-OCT-2010 A73G T195C A263G 309.1C 315.1C G499A 523.1C 523.2A A745G A750G A1438G A1811G A2706G C3204T T4646C A4769G T5999C A6047G C7028T C8818T A8860G C11332T A11467G G11719A A12308G G12372A A12937G C14568T C14620T C14766T A15326G T15693C C16134T C16301T T16356C T16519C 6. JQ797809(France) Pala J1c2a5 22-MAY-2012 A73G G185A A188G G228A A263G C295T 309.1C 315.1C C462T T489C C522- A750G A1438G A2706G G3010A T4216C A4769G C7028T A8860G A10398G A11251G G11719A A12612G G13708A C14568T C14766T T14798C A15326G C15452A C16069T T16126C C16366T T16519C And other mutations are:

GenBank Sequences with LHON mutation G10680A

1. FJ986465(China-LHON) Yang B4d1 16-JUN-2009 A73G G185A A189G A263G T489C A750G A827G A1438G A2706G A4769G C7028T C8281- C8282- C8283- C8284- C8285- T8286- C8287- T8288- A8289- A8860G G10680A G11719A G11914A C13449T A13942G C14239T T14484C C14766T A15038G A15326G C15535T G15930A T16189C T16217C T16519C 2. GU377087(China-LHON) Zou M13a 25-JAN-2010 A73G T152C A263G 309.1C 315.1C T489C A750G T980C A1438G A2706G T3644C A4769G G5773A G6023A T6253C T6620C C7028T A8701G A8860G G9053A T9540C A10398G C10400T A10411G G10646A G10680A T10790C T10873C G11719A C12705T G13135A C14766T T14783C G15043A G15301A A15326G A15924G G16145A C16148T C16188T T16189C C16223T C16239T T16381C G16391A 3. JF742198(Nepal) Wang_H M33b 31-MAR-2012 A73G A263G 309.1C 315.1C T489C G676A A750G 1358.1A G1719A G2361A A2706G T3202C A3221G C3469T A4769G G6261A T6293C C7028T A8701G T8802C A8860G C9344T T9540C A10398G C10400T G10680A T10873C G11719A C12705T C14766T T14783C G15043A T15514C C15868T C16223T T16324C T16362C T16519C 4. JN866824(China-LHON) Zhang B4a1e 11-JUL-2012 A73G T146C A263G 309.1C 315.1C C522- A523- A750G A1438G T2352C A2706G T3540C T3548C A4769G T5465C C7028T C8281- C8282- C8283- C8284- C8285- T8286- C8287- T8288- A8289- A8860G G9123A T10238C G10680A G11719A C14766T A15326G C16168T A16182- A16183- T16189C 16193.1C 16193.2C T16217C C16261T T16311C T16519C 5. JN866825(China-LHON) Zhang D6a1 11-JUL-2012 A73G A263G 309.1C 315.1C T489C G709A A750G A1438G G1719A A2706G A3714G G3745A A4769G C4883T C5178A A6701G C7028T A7424G A7879G G8251A A8701G A8860G T9540C A10398G C10400T G10680A T10873C G11719A T11809C A12654G C12705T G13194A A13327G A14344R C14766T T14783C G15043A G15301A A15326G C15688T T16189C C16192T C16223T G16274A T16362C and in 8 possibly normal sequences: 6. JQ703337 Behar H1b 07-APR-2012 A263G 315.1C A750G A1438G G3010A A4769G A8860G G10680A C13389T A15326G T16189C T16356C T16519C 7. JQ704194 Behar H1t 07-APR-2012 A95C T195C A263G 309.1C 315.1C A750G A1438G T2141C G3010A A3447G A4769G T6167C T6293C A8860G C9911A G9986A G10680A A15326G T16519C 8. JX153117(Greece) Raule H13a1a 10-JAN-2014 A263G 315.1C G709A A750G A1008G A1438G C2259T A4769G A8860G T9824C G10680A C14872T A15326G 9. KF162184(Denmark) Li R9b1 01-OCT-2013 A73G T152C A263G T310C C522- A523- A750G A1438G T1541C A2706G C3204T G3316A C3970T A4769G T6815N C7028N A8860G GG10680A G11719A T12714C G13928C C14766T A15326G C16192N T16304C A16309G G16390A T16519C 10. KF540683(Taiwan HAK33) Ko D4a 05-MAR-2014 A73G T146C T152C A263G T489C A750G A1438G A2706G G3010A C3206T A4769G C4883T C5178A C7028T C8414T T8473C A8701G A8860G T9540C A10398G C10400T G10680A T10873C G11719A C12705T A13350G C14668T C14766T T14783C T14979C G15043A G15301A A15326G G16129A C16223T C16270T T16362C T16519C 11. KF451144(HGDP00621-Bedouin) Lippold L0a1b1a 07-OCT-2014 A93G A95C G185A A189G T236C G247A A263G 309.1C 315.1C C522- A523- T593C A750G G769A T825A G1018A C1048T A1438G A2245G A2706G G2758A T2885C C3311T C3516A C3594T A4104G C4312T T4586C A4769G T5096C G5231A T5442C G5460A C5603T C5911T T6185C C7028T A7146G C7256T G7521A A8191G C8428T C8468T A8566G C8655T A8701G A8860G C9042T A9347G T9540C G9755A C9818T A10398G G10589A C10664T G10680A G10688A T10810C T10873C T10915C G11176A A11641G G11719A G11914A G12007A G12127A C12705T A12720G A13105G A13276G C13506T C13650T A14007G T14308C C14766T C15136T A15326G G15431A G16129A C16148T C16168T T16172C C16187T C16188G T16189C C16223T A16230G C16278T A16293G T16311C C16320T ... KJ445748(HGDP00621-Bedouin) Zheng L0a1b1a 26-APR-2014 A93G A95C G185A A189G T236C G247A A263G C522- A523- T593C A750G G769A T825A G1018A C1048T A1438G A2245G A2706G G2758A T2885C C3311T C3516A C3594T A4104G C4312T T4586C A4769G T5096C G5231A T5442C G5460A C5603T C5911T T6185C C7028T A7146G C7256N G7521A A8191G C8428T C8468T A8566G C8655T A8701G A8860G C9042T A9347G T9540C G9755A C9818T A10398G G10589A C10664T G10680A G10688A T10810C T10873C T10915C G11176A A11641G G11719A G11914A G12007A G12127A C12705T A12720G A13105G A13276G C13506T C13650T A14007G T14308C C14766T C15136T A15326G G15431A G16129A C16148T C16168T T16172C C16187T C16188G T16189C C16223T A16230G C16278T A16293G T16311C C16320T 12. KF450878(HGDP00119-Hazara) Lippold HV 07-OCT-2014 A263G 315.1C A750G A1438G A2706G C3351T A3744G A4769G A4829G C7028T A8860G G10680A A11566G G12630A T13437C A15326G A16158T T16311C T16519C ... KJ446269(HGDP00119-Pakistan) Zheng HV 26-APR-2014 A263G 315.1C A750G A1438G A2706G C3351T A3744G A4769G A4829G C7028T A8860G G10680A A11566G G12630A T13437C A15326G A16158T T16311C T16519C 13. KJ669103(Namibia) Chan L0k1a2 08-APR-2015 A73G T146C T152C A189G T195C C198T G247A 315.1C C522- A523- A750G G769A T825A T850C G1018A C1048T T1243C A1438G A2706G G2758A C2836A T2885C C3516A C3594T A3876G A4104G C4312T G4541A T4586C A4769G T4907C T5442C A5811G T6185C C6938T C7028T A7146G C7256T A7257G G7521A T8222C C8468T C8655T A8701G A8860G T8911C C8922T G8994A C9042T A9136G A9347G T9540C C9818T A10398G A10499G G10589A C10664T G10680A G10688A T10810C T10873C A10876G T10915C C10920T C10939T A10978G C11296T T11299C A11653G G11719A G11914A G12007A G12070A C12705T T13020C A13105G A13276G C13506T G13590A C13650T T13819C G13928C T14020C T14182C T14371C T14374C C14766T A15326G A16166- A16170C T16172A A16175C C16176A A16177C T16178A C16179T A16180C C16184A C16188T T16189C 16193.1C T16209C C16214T C16223T A16230G C16278T C16291A T16311C T16519C And under consideration: JQ446396(India-LHON G3922A) Khan M5a1 31-JAN-2013 G185A A263G T334C T489C G709A A750G A1438G G1888A A2706G G3922A A4769G A4916G C7028T A8701G A8860G T9540C A9604G A10398G C10400T T10649C A10754G G11016A G11719A T12477C G13135A T13260C G14323A C14766T T14783C G15043A T15184C T15287C G15301A A15326G G16129A C16223T C16286T C16291T T16519C JQ446397(India-LHON) Khan R 31-JAN-2013 A73G A750G A1438G A2706G A4769G A5894G G7897A A8860G T11075C G11719A C12133T C15202T T16362C T16519C JQ446398(India-LHON C3817T) Khan R7b2 31-JAN-2013 A73G T146C T195C A263G C522- A523- A750G A1438G G1442A C2282T A2706G G3316A C3817T T6248C C7028T T7310C T7711C T7870C G8557A A8860G A9051G T9110C G9966A A10289G A11380G G11719A T12384C G12940A A13105G T13830C C14064T C14766T A15326G C16260T C16261T T16311C G16319A T16362C T16519C JQ446399(India-LHON) Khan N5 31-JAN-2013 A73G A263G A750G A2706G A4769G T5063C T6011C C6164T C7028T A7076G C7492T G8545A A8860G A9545G A10398G T11626C G11719A C12505T C12705T T13617C T15262C A15326G T15972C A16051G T16092C C16111T C16223T C16261T T16311C JQ446400(India-LHON) Khan M33b 31-JAN-2013 A73G A263G T489C G676A A750G A1438G G1719A G2361A A2706G A3221G A4231G A4769G T6293C C7028T A8701G A8860G C9344T T9540C A10398G C10400T G11719A G11887A C12705T C14766T T14783C G14905A G15043A G15301A A15326G C16223T C16234T T16324C T16362C T16519C JQ446401(India-LHON) Khan R30a 31-JAN-2013 A73G T152C A263G A750G A1438G G2056A A2706G G3316A T4047C A4225G T4232C A4769G T5442C G6764A C7028T G8584A A8860G A9156G A9242G A10658G C11047A G11719A T12714C A13933G C14766T T15055C A15326G C16256T JQ446402(India-LHON) Khan H13a2a 31-JAN-2013 A263G 315.1C G709A A750G A1008G A1438G C2259T A4769G T5442C T8632C A8860G C11047A G14323A G15110A A15326G T16519C JQ446403(India-LHON) Khan M30a 31-JAN-2013 A73G T195A A263G 315.1C T489C G513A C514A A750G A1438G A2706G A4769G C7028T A8701G A8860G T9540C A10398G C10400T T10873C G11719A G12007A C12705T C14766T T14783C G15043A G15301A A15326G G15431A C16223T T16519C JQ446404(India-LHON) Khan M2b1 31-JAN-2013 A73G T152C C182T T195C A263G 315.1C C447G T489C C522- A523- A750G A1438G A1453G T1780C A2706G G2831T C3630T A4769G T5420C G5744A G6260A A6647G A8502G A8701G A8860G T9540C T9899C A10398G C10400T A11083G G11719A A12280G C12705T T13254C T14783C G15043A G15301A A15326G T15670C T15672C A16051G 16166.1G A16183- T16189C 16193.1C C16223T G16274A A16299G G16319A C16320T T16362C T16519C JQ446405(India-LHON) Khan M6a1 31-JAN-2013 A73G A263G C285T 309.1C 309.2C 315.1C C461T T489C C494G C522- A523- A750G A1438G A2065G A2706G C3486T A3537G T5082C A5301G A5558G C7028T A8701G A8860G G9329A T9540C A10398G C10400T T10640C A14128G T14783C G15043A 16176.1G T16231C C16320T T16362C JQ446406(India-LHON) Khan M2a1a1a 31-JAN-2013 A73G T204C A263G 309.1C 315.1C C447G 455.1C C459- C461T T489C T721C A750G A1438G T1780C A2706G A4769G G5147C G5252A C7028T T7961C A8396G A8502G A8701G A8853G A8860G T9540C T9758C A10398G C10400T A11083G A11084G G11719A C12705T A12810G A14693G C14766T T14783C G15043A G15301A A15326G T15670C T16172C C16223T T16224C C16270T G16274A G16319A T16352C T16519C A16524C JX401415(Spain-LHON) Martinez-Romero H1b1 05-SEP-2012 C150T A263G 309.1C 315.1C C522- A523- A750G A1438G G3010A T3472C A3796G A4769G A8860G A15326G A16183- T16189C 16193.1C T16356C T16362C T16519C

The actions of these mutations are:

G11778A - a mutation in the peptide MT-ND4 (NAD4) that changes the 340th amino acid from an Arginine to a Histidine. This is a subtle change as the amino acids are similar to each other as both carry an electrical charge which makes them important in making links within proteins. However .. a Histidine has a lower positive charge and is physically slightly shorter than an Arginine;and this appears enough to disrupt the function of the peptide. T14484C - a mutation in peptide MT-ND6 (NAD6) which changes the 64th amino acid from a Methionine to a Valine. Again this change is subtle as the amino acids are both neutral in charge. However, Methionine has a 'Sulphur' atom and is physically longer than a Valine; and this appears to be enough to effect a change in function. G3460A - a mutation in peptide MT-ND1 (NAD1) which changes the 52nd amino acid from an Alanine to a Threonine. Again the change is subtle, but a Threonine is physically larger; and this appears to affect the function of the peptide. And for some of the minor mutations: G3635A - a mutation in peptide MT-ND1 (NAD1) which changes the 110th amino acid from a Serine to an Asparagine. Again the change is subtle, but an Asparagine is physically larger; and this appears to affect the function of the peptide. G3700A - a mutation in peptide MT-ND1 (NAD1) which changes the 132nd amino acid from a Alanine to a Threonine. Again the change is subtle, but a Threonine is physically slightly larger; and this appears to affect the function of the peptide. G3733A - a mutation in peptide MT-ND1 (NAD1) which changes the 143rd amino acid from a Glutamic acid to a Lysine. Here the change is significant, as a negative charge is lost; and this appears to affect the function of the peptide. C4171A - a mutation in peptide MT-ND1 (NAD1) which changes the 289nd amino acid from a Lysine to a Methionine. Here, the Methionine with its sulphur atom is physically much larger; and this appears to affect the function of the peptide. T10663C - a mutation in peptide MT-ND4L (NAD4L) which changes the 65th amino acid from a Valine to an Alanine. Again the change is subtle, but a Valine is physically slightly larger; and this appears to affect the function of the peptide. G10680A - a mutation in peptide MT-ND4L (NAD4L) which changes the 71th amino acid from a Alanine to an Threonine. Again the change is subtle, but a Threonine is physically slightly larger; and this appears to affect the function of the peptide. G14459A - a mutation in peptide MT-ND6 (NAD6) which changes the 72nd amino acid from a Alanine to a Valine. Again the change is subtle, but a Valine is very slightly larger; and this appears to affect the function of the peptide. C14482A - a mutation in peptide MT-ND6 (NAD6) which changes the 110th amino acid from a Leucine to a Serine. Again the change is subtle, but a Serine is physically larger; and this appears to affect the function of the peptide. A14495G - a mutation in peptide MT-ND6 (NAD6) which changes the 64th amino acid from a Methionine to an Isoleucine. Again the change is subtle, but an Isoleucine does not have the large sulphur atom; and this appears to affect the function of the peptide. C14568T - a mutation in peptide MT-ND6 (NAD6) which changes the 36th amino acid from a Glycine to a Serine. Here the change is more obvous as a Serine is larger and more rigid; and this appears to affect the function of the peptide. And of mention is the mutation T3394C in peptide MT-ND1 (NAD1) which changes the 30th amino acid from a Tyrosine to a Histidine. This mutation is found in over 500 of the 33,000+ mtDNA sequences on GenBank, and appears to cause LHON in a few people. T3394C appears as a defining mutation in Haplogroups C4a4, D4g1a, J1c1, K1a4a1d & M9a'b. and, A3395G a mutation in peptide MT-ND1 (NAD1) which changes the 30th amino acid from a Tyrosine to a Cysteine. It occurs in 16 sequences on GenBank, in Haplogroups A, B, D, H, J, M, R, U & V. 1. AP008583 ONsq0069(Japanese) Tanaka D4b2a2b 16-JUL-2005 A73G A263G 309.1C 315.1C T489C C522- A523- A750G A1382C A1438G A2706G G3010A A3395G A4769G C4883T C5178A C6005T C6713T C7028T G8020A G8251A C8414T A8701G A8860G C8964T T9540C T9824A C10104T A10398G C10400T T10873C G11719A C12705T C13855T C14668T C14766T T14783C G15043A G15301A A15326G A15524G C16223T T16362C 2. AP008624 ONsq0138(Japanese) Tanaka D4e1a1 16-JUL-2005 C64T A73G G94A C194T A263G 309.1C 315.1C T489C A750G A1438G A2706G G3010A G3316A A3395G A4769G C4883T C5178A T5964C C7028T C8414T A8701G A8860G C9536T T9540C A10398G C10400T T10873C C11215T G11719A C12705T T14470C C14668T C14766T T14783C G15043A G15301A A15326G A15924G T16093C C16176T C16223T T16357C T16362C 3. AY882404(Saami) Achilli-Rengo U5b1b1a1 15-APR-2005 A73G C150T A263G 315.1C A750G A1438G A2706G T3197C A3395G C4059T A4769G A5656G C7028T A7385G A7768G A8860G G9477A T10927C A11467G G11719A A12308G G12372A G12618A T13617C T14182C C14766T A15326G T16144C T16189C C16270T 4. EF660964(Italy) Gasparre (Incomplete) H3-T152C 04-JUL-2007 T152C A263G 315.1C 573.1C 573.2C A750G A1438G T1452C A3395G T4336C A4769G T6776C A8860G G11518A A14687G A15326G C15742T C16192T T16519C 5. EU725611.2(Inuit) Gilbert A2a3 22-JAN-2009 A73G T146C A153G A235G A263G 309.1C 315.1C C522- A523- A663G A750G A1438G A1736G A2706G T2857C C3330T A3395G T4248C A4769G A4824G C7028T G8027A C8794T A8860G G11719A G12007A C12705T C14766T A15326G C16111T C16192T A16207G C16223T C16290T T16311C G16319A T16362C 6. GQ119020(Philippines) Tabbada B5b1c 17-DEC-2009 A73G G103A T152C T204C A263G 315.1C C522- A523- G709A A750G 960.1C A1438G A1555G G1598A A2706G A3395G A3480G C3819T A4769G A5836G C7028T A7771G C8281- C8282- C8283- C8284- C8285- T8286- C8287- T8288- A8289- C8467T G8584A A8784G C8829T A8860G T9950C T10274C A10398G G11719A A12361G C14766T C15223T A15326G C15508T T15514C A15662G A15712G A15851G G15927A A15965- A16113C T16140C A16149C A16183- T16189C 16193.1C T16243C T16519C 7. GU377090(China-LHON) Zou B4h 25-JAN-2010 A73G A263G 309.1C 309.2C 315.1C C522- A523- A750G A1438G A2706G A3395G G3736A A4769G T5093C C7028T C8281- C8282- C8283- C8284- C8285- T8286- C8287- T8288- A8289- A8860G G11719A G12007A T12130C A13269G A14122G C14766T A15326G G16129A A16182- A16183- T16189C 16193.1C 16193.2C T16217C C16261T C16291T T16311C T16362C T16519C 8. HM185205(Yemen)Cerny R0a1a1a 31-JUL-2010 T58C C64T T146C A263G 315.1C A750G A827G A1438G T2442C A2706G A3395G T3847C A4769G C6024T C7028T G8292A A8860G C11761T C13188T G13708A C14766T A15326G T16126C T16172C A16180G C16355T T16362C T16519C 9. HM346884 Peng M9a4a2 16-JAN-2011 A73G T146C C151T A153G A263G 309.1C 315.1C T489C A750G A1438G G1719A A2706G T3394C A3395G A4231G G4491A A4769G G6366A C7028T A8701G A8860G T9540C A10398G C10400T T10873C G11719A C12705T T14308C C14766T T14783C G15043A G15301A A15326G G15884A C16223T C16234T C16260T T16271C T16311C T16362C 10. JQ704752 Behar V7a 07-APR-2012 T72C T89C A93G T195C A263G 309.1C 315.1C A750G G930A A1438G A2706G A3395G G4580A A4769G C7028T G7444A A8860G T11899C A12753G A15326G C15904T G16153A T16298C 11. JQ705099(Germany) Behar V7a 07-APR-2012 T72C A93G T195C A263G 309.1C 315.1C A750G A1438G A2706G A3395G G4580A A4769G A5894C C7028T G7444A A8860G T11899C A15326G C15904T G16153A T16298C 12. JQ705356 Behar J2b1a1 07-APR-2012 A73G C150T T152C A263G C295T 309.1C 315.1C T489C A750G A1438G A2706G A3395G C3637T T4216C A4769G T4907C C5633T G6734A C7028T C7476T C7690T A8860G G10172A A10398G A11251G G11719A A12612G A13527G G13708A T14110C G14569A C14766T G15257A A15326G C15452A G15812A C16069T T16126C C16193T C16278T T16519C 13. KF451754(HGDP01302-Uygur) Lippold U5a1 07-OCT-2014 A73G A263G T310C A750G A1438G A2706G T3197C A3395G A4769G C7028T A8860G G9477A A11467G G11719A A12308G G12372A T13617C C14766T A14793G A15218G A15326G C16192T C16256T C16270T A16399G ... KJ446105(HGDP01302-China) Zheng U5a1 26-APR-2014 A73G A263G A750G A1438G A2706G T3197C A3395G A4769G C7028T A8860G G9477A A11467G G11719A A12308G G12372A T13617C C14766T A14793G A15218G A15326G C16192T C16256T C16270T A16399G 14. KF540733(Taiwan HAN33) Ko D5c1a 05-MAR-2014 A73G T146C C150T C151T T152C T217C A263G T489C A750G T1107C A1438G A2706G C3107N A3395G C3546T A4200T T4216C A4769G C4883T C5178A A5301G C7028T A8701G A8860G T9540C A10397G A10398G C10400T T10873C G11719A C12705T A13105G C14766T T14783C A14927G G15043A G15301A A15326G T15622C T16362C G16390A T16519C 15. KX457620(Thailand-Laos) Kutanan M71-C151T 28-NOV-2016 A73G C151T A263G T282C 309.1C 315.1C T489C C522- A523- A750G A1438G A2706G A3395G T3826C A4769G G6257A C7028T T7679C A8701G A8718G A8860G T9540C A10398G C10400T T10873C G11518A G11719A C12705T C12774A T13215C C14766T T14783C G15043A G15301A A15326G T15458C G16153A C16223T T16271C 16. KX457638(Thailand-Laos) Kutanan M71-C151T 28-NOV-2016 A73G C151T A263G T282C 309.1C 315.1C T489C C522- A523- A750G A1438G A2706G A3395G T3826C A4769G G6257A C7028T T7679C A8701G A8718G A8860G T9540C A10398G C10400T T10873C G11518A G11719A C12705T C12774A T13215C C14766T T14783C G15043A G15301A A15326G T15458C G16153A C16223T T16271C and, T3866C This mutation is found in over 100 sequences and may also cause LHON in a few people. T3866C appears as a defining mutation in Haplogroups J1c2k & L0a1a. and, C4640A This mutation is found in nearly 100 sequences and may also cause LHON in a few people. C4640A appears as a defining mutation in Haplogroup U3b.

Mitochondrial Haplogroups

The fact that mtDNA sequences show different mutations has allowed a 'Phylogenetic Tree' to be constructed; and the tree shows that all of present mankind descends from a single woman who lived about 200,000 years ago. This woman is often called 'Mitochondrial Eve'. The tree also shows that all present day people show a mitochondrial inheritance that is African, Asian or European. Mutationally distinct groups have been given labels, and the phylogenetic tree is now very complicated, but simply put: All African groups begin with the letter: 'L', European group letters have: 'H', 'V', 'J', 'T' 'U' or 'K' and the remainder are predominantly Asian. Haplogroup X is perhaps an exception as it is found in most of the world at a very low frequency. For further detail see: www.phylotree.org The reason for the link between LHON and families in Haplogroup J is unknown; but there is certainly an over-representation of Haplogroup J families within Europe as compared to families from the other Haplogroups. Whether, or not, this is a real link is not known. Haplogroup J is found more commonly in Northern Europe than in Mediterranean areas, but LHON appears to occur in Southern Europe at roughly the same level as in Northern Europe.

For reference - a list of LHON GenBank accession numbers.

1. DQ341083-DQ341088 (LHON-Italy) Carelli 20-MAR-2006 7. EF060363 EF060364 (LHON Italy) La Morgia 31-OCT-2007 9. EU545470-EU545472 (China-LHON) Wang 20-AUG-2008 12. EU558385 FTDNA 22-OCT-2010 G14259A 13. EU807741 (Siberia-LHON) Brown 16-JUN-2008 G3635A 14. EU807742 (Siberia-LHON) Brown 16-JUN-2008 C4640A 15. EU828637 (Tuvan-LHON) Starikovskaya 28-JUN-2008 16. FJ015040 (LHON) Zhang 06-NOV-2008 G11778A 17. FJ147319 (Russia-LHON) Mazunin 01-JUL-2010 G3460A 18. FJ198214-FJ198228 (LHON) Ji 23-DEC-2008 33. FJ944094 (China-LHON) Yang 28-JUL-2009 C4171A 34. FJ969382-FJ969383 (China-LHON) Yang 01-JUL-2009 G3635A 36. FJ986465 (China-LHON) Yang 16-JUN-2009 T14484C 37. GQ202273 (China-LHON) Zhang 13-JUL-2009 G3635A 38. GQ999958-GQ999963 (LHON China) Yu 08-JUL-2010 44. GU377081-GU377090 (China-LHON) Zou 25-JAN-2010 54. HM460791-HM460797 (LHON) Yu 13-NOV-2010 61. HQ260970-HQ260973 (LHON) Yu 13-NOV-2010 65. JF896797-JF896801 (China-LHON) Zhang 26-OCT-2011 70. JN133516 JN133517 (China-LHON) Guo 30-JUN-2012 72. JN415470-JN415484 (Italy-LHON) Achilli 19-AUG-2012 87. JN635298-JN635306 (Spain) Gomez-Duran 26-SEP-2011 96. JN645818-JN645821 (China-LHON) Zhang 12-DEC-2011 100. JN866824-JN866825 (China-LHON) Zhang 11-JUL-2012 102. JQ408982 (LHON) Caporali 30-DEC-2012 G3890A 103. JQ446396-JQ446410 (India-LHON) Khan 31-JAN-2013 118. JX024564-JX024568 (China-LHON) Bi 20-JAN-2013 G3635A 123 JX401415 (Spain-LHON) Martinez-Romero 05-SEP-2012 T3472C 124. JX462680-JX462739 (India-LHON) Khan 31-AUG-2013 G11778A mostly 184. JX588849-JX588853 (India-LHON) Khan 31-AUG-2013 G11778A 189. KC533464 (South Africa) van der Walt 06-MAY-2013 T14484C 190. KF161408 (Denmark) Li 01-OCT-2013 G11778A 191. KF162004 (Denmark) Li 01-OCT-2013 T14484C 192. KF927040 (Belarusian-LHON) La Morgia 03-JUN-2014 C4171A 193. KJ937089 (Armenian) FTDNA 11-JUN-2014 T14484C 194. KJ856805 (Polish) Derenko 16-OCT-2014 G11778R 195. KT901801 (cybrid) Gomez-Duran 26-DEC-2015 T14484C 196. KT726046 (Tibet) Kang2016 17-AUG-2016 G11778A 196. KT726091 (Tibet) Kang2016 17-AUG-2016 G11778A 196. KT726095 (Tibet) Kang2016 17-AUG-2016 G11778N 107. KX146833 (India-LHON) Khan 20-SEP-2016 G11778A 108. KX146834 (India-LHON) Khan 20-SEP-2016 G11778A 109. KX146835 (India-LHON) Khan 20-SEP-2016 G11778A