'MELAS'

(Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes) This condition is caused in the majority of cases by the mutation A3423G that changes a base in the MT-TL1 {Leucine(UUR)} gene of the mitochondrial DNA. The effect of the mutation is to have proteins assembled with the amino acid Phenylalanine in place of the expected Leucine. The mutation is considered to be sporadic and affects all populations; and the frequency is about 1 in 4,000 people

Sequences with A3243G presently on the GenBank database (July 2018 - 45,155 sequences)

1. DQ489509 Hinttala H1b 06-NOV-2006 A750G A1438G G3010A A3243G A3796G A4769G G5046A 5899.1C A8348G A8860G T13608C C14751T A15326G 2. DQ826448(Vietnam) Phan M7b1 10-JUL-2006 A73G C150T T199C T489C A1438G A2706G A3133T A3243G C3311T T3644G G4048A C4071T A4164G T4492G A4769G G5460A C6455T T6680C T6937C G6954A C7028T T7572C A7724T A8701G A8860G T9187A T9824C A10574G T10657A T10873C G11719A C12705T T12811C G15043A G15301A A15326G G16130A C16192T C16223T T16297C 3. DQ862536 Zsurka U5a1b3 11-JAN-2007 A73G C150T A263G 309.1C 315.1C A750G A1438G A2706G T3197C A3243G A4769G C7028T A8860G G9477A A9667G A11467G G11719A A12308G G12372A T13617C C14766T A14793G A15218G A15326G C16192T C16256T C16270T T16362C A16399G G16428A 4. EF661012(Italy) Gasparre (Incomplete) H3f 04-JUL-2007 A93G T152C A263G 309.1C 315.1C A750G A1019G A1438G A3243G C4025T A4769G T6776C G8290A A8860G A9033G A9151G A11893G A15326G C16294T T16519C 5. HM765459 Zaragoza V6 01-AUG-2010 T72C A263G 315.1C A750G A1438G A2706G A3243G G4580A A4769G C7028T A8860G C11920T A15326G C15904T G15930A A16162G T16298C C16527A 6. JF318958(MELAS) Delgado-Sanchez B2c 19-MAR-2011 A73G T146C T152C A263G 309.1C 309.2C A750G A827G A1438G A2706G A3243G A3547G T4755C A4769G G4820A T4977C C6473T C7028T A7241G A7746G C8281- C8282- C8283- C8284- C8285- T8286- C8287- T8288- A8289- A8860G T9682C C9761T T9950C C11177T G11719A G13590A A13661G A15326G C15535T A16182- A16183- T16189C 16193.1C 16193.2C T16217C C16295T T16519C 7. JN989561(Cybrid) Desquiret L2a1f1 10-DEC-2011 0.1T 0.2G A73G T146C T152C T195C C198T A263G 309.1C 315.1C G545T A731G A750G G769A G1018A A1438G T2416C A2706G C2789T A3243G C3594T A4104G A4769G A5581G G6722A C7028T T7175C C7256T C7274T G7521A A7771G G8206A A8701G A8860G A9221G T9540C T10115C A10229G A10398G T10873C G11719A G11914A T11944C A12693G C12705T G13590A C13650T A13803G A14566G C14766T G15301A A15326G T15784C T16189C C16192T C16223T C16278T C16294T A16309G G16390A T16519C 8. KJ185483(Angola) Barbieri L1c2b1b 21-JUN-2014 A73G C151T T152C C182T C186A A189C T195C C198T G247A A263G C264T A297G C309- 315.1C G316A A750G G769A T825A G1018A A1438G A2220G A2395- A2706G G2758A T2885C A3243G C3275G C3594T G3666A A4104G A4769G T5087C A5951G T6071C G6150A C6173T T6253C G6480A C7028T A7055G A7076G A7146G C7256T G7337A T7389C G7521A G8027A C8468T C8655T A8701G A8784G A8860G T8877C A9072G A9108G T9540C T10031C T10321C A10398G G10586A G10688A A10792G C10793T T10810C T10873C A11164G A11654G G11719A C12049T C12669T C12705T A12810G A13105G A13149G A13485G C13506T C13650T T13789C T14000A T14178C G14560A C14766T C14911T A15326G T16093C G16129A C16187T T16189C C16223T T16249C A16265C C16278T C16286G C16294T T16311C C16360T T16519C C16527T 9. MF498684(Germany-ancient) Knipper T2f8a 12-SEP-2017 A73G T146C A263G C303N-C315N A515N-C522N 567.1N G709A A750G A1438G G1888A 2404.1N A2706G C3107N A3243G T4216C A4769G A4917G A5322C C7028T C8270T C8278G G8697A A8860G T10463C A11251G G11719A A11812G G13368A A14118G A14233G C14766T G14905A A15326G C15452A A15607G G15928A T16126C T16189C C16294T C16296T T16519N Reported heterozygous: 10. KM986527(Yemen) Vyas N1b2 21-MAR-2015 A73G T152C A263G 315.1C C522- A523- A750G A1438G G1598A C2639T A2706G A3243R A4769G G5471A C5507A A6905G G7013A C7028T G8251A A8836G A8860G T9325C T10238C G11719A A12026G G12501A C12705T C14766T A15326G T15784C C16176G C16223T A16258C G16390A T16519C 23andMe i5050984 - none reported The amino acids in the 13 peptides in the mtDNA are: NAD1 MPMANLLLLIVPILIAMAFLMLTERKILGYMQLRKGPNVVGPYGLLQPFADAMKLFTK EPLKPATSTITLYITAPTLALTIALLLWTPLPMPNPLVNLNLGLLFILATSSLAVYSI LWSGWASNSNYALIGALRAVAQTISYEVTLAIILLSTLLMSGSFNLSTLITTQEHLWL LLPSWPLAMMWFISTLAETNRTPFDLAEGESELVSGFNIEYAAGPFALFFMAEYTNII MMNTLTTTIFLGTTYDALSPELYTTYFVTKTLLLTSLFLWIRTAYPRFRYDQLMHLLW KNFLPLTLALLMWYVSMPITISSIPPQT NAD2 INPLAQPVIYSTIFAGTLITALSSHWFFTWVGLEMNMLAFIPVLTKKMNPRSTEAAIK YFLTQATASMILLMAILFNNMLSGQWTMTNTTNQYSSLMIMMAMAMKLGMAPFHFWVP EVTQGTPLTSGLLLLTWQKLAPISIMYQISPSLNVSLLLTLSILSIMAGSWGGLNQTQ LRKILAYSSITHMGWMMAVLPYNPNMTILNLTIYIILTTTAFLLLNLNSSTTTLLLSR TWNKLTWLTPLIPSTLLSLGGLPPLTGFLPKWAIIEEFTKNNSLIIPTIMATITLLNL YFYLRLIYSTSITLLPMSNNVKMKWQFEHTKPTPFLPTLIALTTLLLPISPFMLMIL COX1 MFADRWLFSTNHKDIGTLYLLFGAWAGVLGTALSLLIRAELGQPGNLLGNDHIYNVIV TAHAFVMIFFMVMPIMIGGFGNWLVPLMIGAPDMAFPRMNNMSFWLLPPSLLLLLASA MVEAGAGTGWTVYPPLAGNYSHPGASVDLTIFSLHLAGVSSILGAINFITTIINMKPP AMTQYQTPLFVWSVLITAVLLLLSLPVLAAGITMLLTDRNLNTTFFDPAGGGDPILYQ HLFWFFGHPEVYILILPGFGMISHIVTYYSGKKEPFGYMGMVWAMMSIGFLGFIVWAH HMFTVGMDVDTRAYFTSATMIIAIPTGVKVFSWLATLHGSNMKWSAAVLWALGFIFLF TVGGLTGIVLANSSLDIVLHDTYYVVAHFHYVLSMGAVFAIMGGFIHWFPLFSGYTLD QTYAKIHFTIMFIGVNLTFFPQHFLGLSGMPRRYSDYPDAYTTWNILSSVGSFISLTA VMLMIFMIWEAFASKRKVLMVEEPSMNLEWLYGCPPPYHTFEEPVYMKS COX2 MAHAAQVGLQDATSPIMEELITFHDHALMIIFLICFLVLYALFLTLTTKLTNTNISDA QEMETVWTILPAIILVLIALPSLRILYMTDEVNDPSLTIKSIGHQWYWTYEYTDYGGL IFNSYMLPPLFLEPGDLRLLDVDNRVVLPIEAPIRMMITSQDVLHSWAVPTLGLKTDA IPGRLNQTTFTATRPGVYYGQCSEICGANHSFMPIVLELIPLKIFEMGPVFTL ATP8 MPQLNTTVWPTMITPMLLTLFLITQLKMLNTNYHLPPSPKPMKMKNYNKPWEPKWTKI CSLHSLPPQS ATP6 MNENLFASFIAPTILGLPAAVLIILFPPLLIPTSKYLINNRLITTQQWLIKLTSKQMM TMHNTKGRTWSLMLVSLIIFIATTNLLGLLPHSFTPTTQLSMNLAMAIPLWAGTVIMG FRSKIKNALAHFLPQGTPTPLIPMLVIIETISLLIQPMALAVRLTANITAGHLLMHLI GSATLAMSTINLPSTLIIFTILILLTILEIAVALIQAYVFTLLVSLYLHDNT COX3 MTHQSHAYHMVKPSPWPLTGALSALLMTSGLAMWFHFHSMTLLMLGLLTNTLTMYQWW RDVTRESTYQGHHTPPVQKGLRYGMILFITSEVFFFAGFFWAFYHSSLAPTPQLGGHW PPTGITPLNPLEVPLLNTSVLLASGVSITWAHHSLMENNRNQMIQALLITILLGLYFT LLQASEYFESPFTISDGIYGSTFFVATGFHGLHVIIGSTFLTICFIRQLMFHFTSKHH FGFEAAAWYWHFVDVVWLFLYVSIYWWGS NAD3 MNFALILMINTLLALLLMIITFWLPQLNGYMEKSTPYECGFDPMSPARVPFSMKFFLV AITFLLFDLEIALLLPLPWALQTTNLPLMVMSSLLLIIILALSLAYEWLQKGLDWTE NAD4L MPLIYMNIMLAFTISLLGMLVYRSHLMSSLLCLEGMMLSLFIMATLMTLNTHSLLANI VPIAMLVFAACEAAVGLALLVSISNTYGLDYVHNLNLLQC NAD4 MLKLIVPTIMLLPLTWLSKKHMIWINTTTHSLIISIIPLLFFNQINNNLFSCSPTFSS DPLTTPLLMLTTWLLPLTIMASQRHLSSEPLSRKKLYLSMLISLQISLIMTFTATELI MFYIFFETTLIPTLAIITRWGNQPERLNAGTYFLFYTLVGSLPLLIALIYTHNTLGSL NILLLTLTAQELSNSWANNLMWLAYTMAFMVKMPLYGLHLWLPKAHVEAPIAGSMVLA AVLLKLGGYGMMRLTLILNPLTKHMAYPFLVLSLWGMIMTSSICLRQTDLKSLIAYSS ISHMALVVTAILIQTPWSFTGAVILMIAHGLTSSLLFCLANSNYERTHSRIMILSQGL QTLLPLMAFWWLLASLANLALPPTINLLGELSVLVTTFSWSNITLLLTGLNMLVTALY SLYMFTTTQWGSLTHHINNMKPSFTRENTLMFMHLSPILLLSLNPDIITGFSS NAD5 MTMHTTMTTLTLTSLIPPILTTLVNPNKKNSYPHYVKSIVASTFIISLFPTTMFMCLD QEVIISNWHWATTQTTQLSLSFKLDYFSMMFIPVALFVTWSIMEFSLWYMNSDPNINQ FFKYLLIFLITMLILVTANNLFQLFIGWEGVGIMSFLLISWWYARADANTAAIQAILY NRIGDIGFILALAWFILHSNSWDPQQMALLNANPSLTPLLGLLLAAAGKSAQLGLHPW LPSAMEGPTPVSALLHSSTMVVAGIFLLIRFHPLAENSPLIQTLTLCLGAITTLFAAV CALTQNDIKKIVAFSTSSQLGLMMVTIGINQPHLAFLHICTHAFFKAMLFMCSGSIIH NLNNEQDIRKMGGLLKTMPLTSTSLTIGSLALAGMPFLTGFYSKDHIIETANMSYTNA WALSITLIATSLTSAYSTRMILLTLTGQPRFPTLTNINENNPTLLNPIKRLAAGSLFA GFLITNNISPASPFQTTIPLYLKLTALAVTFLGLLTALDLNYLTNKLKMKSPLCTFYF SNMLGFYPSITHRTIPYLGLLTSQNLPLLLLDLTWLEKLLPKTISQHQISTSIITSTQ KGMIKLYFLSFFFPLILTLLLIT NAD6 MMYALFLLSVGLVMGFVGFSSKPSPIYGGLVLIVSGVVGCVIILNFGGGYMGLMVFLI YLGGMMVVFGYTTAMAIEEYPEAWGSGVEVLVSVLVGLAMEVGLVLWVKEYDGVVVVV NFNSVGSWMIYEGEGSGLIREDPIGAGALYDYGRWLVVVTGWTLFVGVYIVIEIARGN CYTB MTPMRKTNPLMKLINHSFIDLPTPSNISAWWNFGSLLGACLILQITTGLFLAMHYSPD ASTAFSSIAHITRDVNYGWIIRYLHANGASMFFICLFLHIGRGLYYGSFLYSETWNIG IILLLATMATAFMGYVLPWGQMSFWGATVITNLLSAIPYIGTDLVQWIWGGYSVDSPT LTRFFTFHFILPFIIAALATLHLLFLHETGSNNPLGITSHSDKITFHPYYTIKDALGL LLFLLSLMTLTLFSPDLLGDPDNYTLANPLNTPPHIKPEWYFLFAYTILRSVPNKLGG VLALLLSILILAMIPILHMSKQQSMMFRPLSQSLYWLLAADLLILTWIGGQPVSYPFT IIGQVASVLYFTTILILMPTISLIENKMLKWA tta = 73 ttg = 18 code for Leucine(UUR) So there are 91 copies of Leucine that might be replaced by Phenylalanine. Mutations found in the sequences on the GenBank database (July 2018) (Not a complete list) ND1 case "3541T" : return rstr + " . Found in several Haplogroup H14a sequences"; //MT-ND1 0.01% 5 L79F C>T Leu>Phe case "3553T" : return rstr + " . Found in 5 sequences only"; //MT-ND1 0.01% 5 L83F C>T Leu>Phe case "3571T" : return dstr + "B4c1b2"; //MT-ND1 0.2% 93 L89F C>T Leu>Phe case "3598T" : return rstr + " . Unique in Haplogroup C1d1 sequence"; //MT-ND1 <0.01% 1 L98F C>T Leu>Phe case "3820T" : return rstr + " . Found in 2 Haplogroup T2b22 sequences"; //MT-ND1 <0.01% 2 L172F C>T Leu>Phe case "4015T" : return rstr + " . Found in 2 sequences only"; //MT-ND1 <0.01% 2 L237F C>T Leu>Phe ND2 case "4707T" : return dstr + "Q1c"; //MT-ND2 0.1% 37 L80F C>T Leu>Phe case "4938T" : return rstr + " . Found in 2 sequences only"; //MT-ND2 <0.01% 2 L157F C>T Leu>Phe case "5076T" : return dstr + "F3b1"; //MT-ND2 0.5% 206 L203F C>T Leu>Phe case "5211T" : return dstr + "L3b1a7"; //MT-ND2 0.01% 4 L248F C>T Leu>Phe case "5295T" : return rstr + " . Found in several Haplogroups"; //MT-ND2 0.05% 20 L276F C>T Leu>Phe case "5463T" : return dstr + "J1b1a1a"; //MT-ND2 0.05% 21 L332F C>T Leu>Phe CO1 case "6228T" : return dstr + "M7b1a1e"; //MT-CO1 0.1% 51 L109F C>T Leu>Phe case "6546T" : return dstr + "U8b1a"; //MT-CO1 0.05% 24 L215F C>T Leu>Phe case "6918T" : return rstr + " . Found in several Haplogroups"; //MT-CO1 0.02% 8 L339F C>T Leu>Phe CO2 case "7721T" : return rstr + " . Unique in Haplogroup U7a3a1a1 sequence"; //MT-CO2 <0.01% 1 L46F C>T Leu>Phe ATP8 case "8414T" : return dstr + "D4"; //MT-ATP8 4% 1826 L17F C>T Leu>Phe case "8417T" : return dstr + "L1c3b1"; //MT-ATP8 0.1% 34 L18F C>T Leu>Phe case "8429T" : return dstr + "H1ax"; //MT-ATP8 0.03% 13 L22F C>T Leu>Phe ATP6 * case "8616T" : return dstr + "I1a"; //MT-ATP6 0.3% 140 L30F G>T Leu>Phe * case "8776T" : return dstr + "M25"; //MT-ATP6 0.02% 9 L84F C>T Leu>Phe case "8974T" : return dstr + "T1a1k2"; //MT-ATP6 0.02% 8 L150F C>T Leu>Phe case "9094T" : return dstr + "U2b2"; //MT-ATP6 0.08% 31 L190F C>T Leu>Phe CO3 case "9333T" : return rstr + " . Found in 2 sequences only"; //MT-CO3 <0.01% 2 L43F C>T Leu>Phe case "9696T" : return rstr + " . Found in several Haplogroups"; //MT-CO3 0.01% 6 L164F C>T Leu>Phe case "9717T" : return rstr + " . Found in 2 Haplogroup U4d1 sequences"; //MT-CO3 <0.01% 2 L171F C>T Leu>Phe NAD4 case "10808T" : return rstr + " . Unique in Haplogroup H sequence"; //MT-ND4 <0.01% 1 L17F C>T Leu>Phe case "11039T" : return rstr + " . Found in 4 sequences only"; //MT-ND4 0.01% 4 L94F C>T Leu>Phe case "12014T" : return rstr + " . Found in several Haplogroups"; //MT-ND4 0.02% 7 L419F C>T Leu>Phe case "12065T" : return rstr + " . Unique in Haplogroup L3d sequence"; //MT-ND4 <0.01% 1 L436F C>T Leu>Phe case "12092T" : return dstr + "N1b2"; //MT-ND4 0.08% 33 L445F C>T Leu>Phe ND5 case "12403T" : return dstr + "M1"; //MT-ND5 0.5% 205 L23F C>T Leu>Phe case "12562T" : return dstr + "L0d2c1b"; //MT-ND5 0.02% 7 L76F C>T Leu>Phe case "14119T" : return dstr + "P12b"; //MT-ND5 0.02% 9 L595F C>T Leu>Phe ND6 case "14272T" : return dstr + "L3d2"; //MT-ND6 0.06% 24 L134F C>T Leu>Phe (error) case "14272G" : return rstr + " . Found in 4 sequences only"; //MT-ND6 0.01% 4 L134F C>G Leu>Phe (error) case "14368G" : return rstr + " . Found in Haplogroup J1c10 sequence"; //MT-ND6 <0.01% 1 L102F C>G Leu>Phe (error) CYTB case "14990T" : return dstr + "R5a2b"; //MT-CYB 0.05% 21 L82F C>T Leu>Phe case "15107T" : return rstr + " . Unique in Haplogroup A2c sequence"; //MT-CYB <0.01% 1 L121F C>T Leu>Phe case "15443T" : return rstr + " . Found in several Haplogroups"; //MT-CYB <0.01% 3 L233F C>T Leu>Phe case "15452T" : return dstr + "F1a3a3"; //MT-CYB 0.04% 17 L236F C>T Leu>Phe case "15641T" : return rstr + " . Found in 2 sequences only"; //MT-CYB <0.01% 2 L299F C>T Leu>Phe case "15740T" : return rstr + " . Found in several Haplogroups"; //MT-CYB 0.02% 6 L332F C>T Leu>Phe * Only instance where tRNA-Leu(UUR) is converted to Phenylalanine by a mutation.