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T126B_HUMAN
ID   T126B_HUMAN             Reviewed;         230 AA.
AC   Q8IUX1; A8K535; A8MSS0; Q32Q09; Q8WVU3; Q96EP3; Q9NZ29;
DT   20-MAR-2007, integrated into UniProtKB/Swiss-Prot.
DT   20-MAR-2007, sequence version 2.
DT   03-AUG-2022, entry version 131.
DE   RecName: Full=Complex I assembly factor TMEM126B, mitochondrial {ECO:0000305};
DE   AltName: Full=Transmembrane protein 126B;
GN   Name=TMEM126B {ECO:0000312|HGNC:HGNC:30883}; ORFNames=HT007;
OS   Homo sapiens (Human).
OC   Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia;
OC   Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae;
OC   Homo.
OX   NCBI_TaxID=9606;
RN   [1]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2).
RC   TISSUE=Hypothalamus;
RX   PubMed=10931946; DOI=10.1073/pnas.160270997;
RA   Hu R.-M., Han Z.-G., Song H.-D., Peng Y.-D., Huang Q.-H., Ren S.-X.,
RA   Gu Y.-J., Huang C.-H., Li Y.-B., Jiang C.-L., Fu G., Zhang Q.-H., Gu B.-W.,
RA   Dai M., Mao Y.-F., Gao G.-F., Rong R., Ye M., Zhou J., Xu S.-H., Gu J.,
RA   Shi J.-X., Jin W.-R., Zhang C.-K., Wu T.-M., Huang G.-Y., Chen Z.,
RA   Chen M.-D., Chen J.-L.;
RT   "Gene expression profiling in the human hypothalamus-pituitary-adrenal axis
RT   and full-length cDNA cloning.";
RL   Proc. Natl. Acad. Sci. U.S.A. 97:9543-9548(2000).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC   TISSUE=Cervix carcinoma;
RA   Li W.B., Gruber C., Jessee J., Polayes D.;
RT   "Full-length cDNA libraries and normalization.";
RL   Submitted (FEB-2003) to the EMBL/GenBank/DDBJ databases.
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 5).
RX   PubMed=14702039; DOI=10.1038/ng1285;
RA   Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA   Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA   Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA   Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA   Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA   Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA   Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA   Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA   Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA   Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA   Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA   Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA   Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA   Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA   Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA   Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA   Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA   Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA   Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA   Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA   Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA   Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA   Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA   Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA   Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA   Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA   Isogai T., Sugano S.;
RT   "Complete sequencing and characterization of 21,243 full-length human
RT   cDNAs.";
RL   Nat. Genet. 36:40-45(2004).
RN   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=16554811; DOI=10.1038/nature04632;
RA   Taylor T.D., Noguchi H., Totoki Y., Toyoda A., Kuroki Y., Dewar K.,
RA   Lloyd C., Itoh T., Takeda T., Kim D.-W., She X., Barlow K.F., Bloom T.,
RA   Bruford E., Chang J.L., Cuomo C.A., Eichler E., FitzGerald M.G.,
RA   Jaffe D.B., LaButti K., Nicol R., Park H.-S., Seaman C., Sougnez C.,
RA   Yang X., Zimmer A.R., Zody M.C., Birren B.W., Nusbaum C., Fujiyama A.,
RA   Hattori M., Rogers J., Lander E.S., Sakaki Y.;
RT   "Human chromosome 11 DNA sequence and analysis including novel gene
RT   identification.";
RL   Nature 440:497-500(2006).
RN   [5]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RA   Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M.,
RA   Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J.,
RA   Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S.,
RA   Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H.,
RA   Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K.,
RA   Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D.,
RA   Hunkapiller M.W., Myers E.W., Venter J.C.;
RL   Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN   [6]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 3; 4 AND 5), AND VARIANT
RP   VAL-198.
RC   TISSUE=B-cell, Blood vessel, and Brain;
RX   PubMed=15489334; DOI=10.1101/gr.2596504;
RG   The MGC Project Team;
RT   "The status, quality, and expansion of the NIH full-length cDNA project:
RT   the Mammalian Gene Collection (MGC).";
RL   Genome Res. 14:2121-2127(2004).
RN   [7]
RP   PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-34, AND IDENTIFICATION BY
RP   MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC   TISSUE=Erythroleukemia;
RX   PubMed=23186163; DOI=10.1021/pr300630k;
RA   Zhou H., Di Palma S., Preisinger C., Peng M., Polat A.N., Heck A.J.,
RA   Mohammed S.;
RT   "Toward a comprehensive characterization of a human cancer cell
RT   phosphoproteome.";
RL   J. Proteome Res. 12:260-271(2013).
RN   [8]
RP   FUNCTION, SUBCELLULAR LOCATION, AND SUBUNIT.
RX   PubMed=24191001; DOI=10.1073/pnas.1319247110;
RA   Andrews B., Carroll J., Ding S., Fearnley I.M., Walker J.E.;
RT   "Assembly factors for the membrane arm of human complex I.";
RL   Proc. Natl. Acad. Sci. U.S.A. 110:18934-18939(2013).
RN   [9]
RP   CLEAVAGE OF INITIATOR METHIONINE [LARGE SCALE ANALYSIS], AND IDENTIFICATION
RP   BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RX   PubMed=25944712; DOI=10.1002/pmic.201400617;
RA   Vaca Jacome A.S., Rabilloud T., Schaeffer-Reiss C., Rompais M., Ayoub D.,
RA   Lane L., Bairoch A., Van Dorsselaer A., Carapito C.;
RT   "N-terminome analysis of the human mitochondrial proteome.";
RL   Proteomics 15:2519-2524(2015).
RN   [10]
RP   IDENTIFICATION IN THE MCIA COMPLEX, AND FUNCTION.
RX   PubMed=32320651; DOI=10.1016/j.celrep.2020.107541;
RA   Formosa L.E., Muellner-Wong L., Reljic B., Sharpe A.J., Jackson T.D.,
RA   Beilharz T.H., Stojanovski D., Lazarou M., Stroud D.A., Ryan M.T.;
RT   "Dissecting the Roles of Mitochondrial Complex I Intermediate Assembly
RT   Complex Factors in the Biogenesis of Complex I.";
RL   Cell Rep. 31:107541-107541(2020).
RN   [11]
RP   INTERACTION WITH TMEM70.
RX   PubMed=33753518; DOI=10.1073/pnas.2100558118;
RA   Carroll J., He J., Ding S., Fearnley I.M., Walker J.E.;
RT   "TMEM70 and TMEM242 help to assemble the rotor ring of human ATP synthase
RT   and interact with assembly factors for complex I.";
RL   Proc. Natl. Acad. Sci. U.S.A. 118:0-0(2021).
RN   [12]
RP   INVOLVEMENT IN MC1DN29, VARIANTS MC1DN29 70-GLN--GLU-230 DEL AND VAL-212,
RP   AND CHARACTERIZATION OF VARIANTS MC1DN29 70-GLN--GLU-230 DEL AND VAL-212.
RX   PubMed=27374773; DOI=10.1016/j.ajhg.2016.05.022;
RA   Sanchez-Caballero L., Ruzzenente B., Bianchi L., Assouline Z., Barcia G.,
RA   Metodiev M.D., Rio M., Funalot B., van den Brand M.A.,
RA   Guerrero-Castillo S., Molenaar J.P., Koolen D., Brandt U., Rodenburg R.J.,
RA   Nijtmans L.G., Roetig A.;
RT   "Mutations in complex I assembly factor TMEM126B result in muscle weakness
RT   and isolated complex I deficiency.";
RL   Am. J. Hum. Genet. 99:208-216(2016).
RN   [13]
RP   INVOLVEMENT IN MC1DN29, VARIANT MC1DN29 VAL-212, AND CHARACTERIZATION OF
RP   VARIANT MC1DN29 VAL-212.
RX   PubMed=27374774; DOI=10.1016/j.ajhg.2016.05.021;
RA   Alston C.L., Compton A.G., Formosa L.E., Strecker V., Olahova M.,
RA   Haack T.B., Smet J., Stouffs K., Diakumis P., Ciara E., Cassiman D.,
RA   Romain N., Yarham J.W., He L., De Paepe B., Vanlander A.V., Seneca S.,
RA   Feichtinger R.G., Ploski R., Rokicki D., Pronicka E., Haller R.G.,
RA   Van Hove J.L., Bahlo M., Mayr J.A., Van Coster R., Prokisch H., Wittig I.,
RA   Ryan M.T., Thorburn D.R., Taylor R.W.;
RT   "Biallelic mutations in TMEM126B cause severe complex I deficiency with a
RT   variable clinical phenotype.";
RL   Am. J. Hum. Genet. 99:217-227(2016).
CC   -!- FUNCTION: As part of the MCIA complex, involved in the assembly of the
CC       mitochondrial complex I (PubMed:32320651, PubMed:27374773,
CC       PubMed:27374774). Participates in constructing the membrane arm of
CC       complex I (PubMed:24191001). {ECO:0000269|PubMed:24191001,
CC       ECO:0000269|PubMed:27374773, ECO:0000269|PubMed:27374774,
CC       ECO:0000269|PubMed:32320651}.
CC   -!- SUBUNIT: Part of the mitochondrial complex I assembly/MCIA complex that
CC       comprises at least the core subunits TMEM126B, NDUFAF1, ECSIT and ACAD9
CC       and complement subunits such as COA1 and TMEM186 (PubMed:32320651).
CC       Associates with the intermediate 370 kDa subcomplex of incompletely
CC       assembled complex I (PubMed:24191001). Interacts with TMEM70
CC       (PubMed:33753518). {ECO:0000269|PubMed:24191001,
CC       ECO:0000269|PubMed:32320651, ECO:0000269|PubMed:33753518}.
CC   -!- INTERACTION:
CC       Q8IUX1; Q96HT8: MRFAP1L1; NbExp=3; IntAct=EBI-2800657, EBI-748896;
CC   -!- SUBCELLULAR LOCATION: Mitochondrion membrane
CC       {ECO:0000269|PubMed:24191001}; Multi-pass membrane protein
CC       {ECO:0000269|PubMed:24191001}.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=5;
CC       Name=1;
CC         IsoId=Q8IUX1-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=Q8IUX1-2; Sequence=VSP_023871, VSP_023872;
CC       Name=3;
CC         IsoId=Q8IUX1-3; Sequence=VSP_023870, VSP_023873, VSP_023874;
CC       Name=4;
CC         IsoId=Q8IUX1-4; Sequence=VSP_023875;
CC       Name=5;
CC         IsoId=Q8IUX1-5; Sequence=VSP_023870;
CC   -!- DISEASE: Mitochondrial complex I deficiency, nuclear type 29 (MC1DN29)
CC       [MIM:618250]: A form of mitochondrial complex I deficiency, the most
CC       common biochemical signature of mitochondrial disorders, a group of
CC       highly heterogeneous conditions characterized by defective oxidative
CC       phosphorylation, which collectively affects 1 in 5-10000 live births.
CC       Clinical disorders have variable severity, ranging from lethal neonatal
CC       disease to adult-onset neurodegenerative disorders. Phenotypes include
CC       macrocephaly with progressive leukodystrophy, non-specific
CC       encephalopathy, cardiomyopathy, myopathy, liver disease, Leigh
CC       syndrome, Leber hereditary optic neuropathy, and some forms of
CC       Parkinson disease. MC1DN29 transmission pattern is consistent with
CC       autosomal recessive inheritance. {ECO:0000269|PubMed:27374773,
CC       ECO:0000269|PubMed:27374774}. Note=The disease is caused by variants
CC       affecting the gene represented in this entry.
CC   -!- SIMILARITY: Belongs to the TMEM126 family. {ECO:0000305}.
CC   -!- SEQUENCE CAUTION:
CC       Sequence=AAI07901.1; Type=Frameshift; Evidence={ECO:0000305};
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DR   EMBL; AF220193; AAF67658.1; -; mRNA.
DR   EMBL; CR612738; -; NOT_ANNOTATED_CDS; mRNA.
DR   EMBL; AK291150; BAF83839.1; -; mRNA.
DR   EMBL; AP000642; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; CH471076; EAW75098.1; -; Genomic_DNA.
DR   EMBL; BC012065; AAH12065.1; -; mRNA.
DR   EMBL; BC017574; AAH17574.1; -; mRNA.
DR   EMBL; BC038933; AAH38933.1; -; mRNA.
DR   EMBL; BC107900; AAI07901.1; ALT_FRAME; mRNA.
DR   CCDS; CCDS53686.1; -. [Q8IUX1-5]
DR   CCDS; CCDS8267.2; -. [Q8IUX1-1]
DR   RefSeq; NP_001180467.1; NM_001193538.2. [Q8IUX1-5]
DR   RefSeq; NP_001243475.1; NM_001256546.1. [Q8IUX1-5]
DR   RefSeq; NP_060950.3; NM_018480.4. [Q8IUX1-1]
DR   RefSeq; XP_011543467.1; XM_011545165.2. [Q8IUX1-5]
DR   AlphaFoldDB; Q8IUX1; -.
DR   BioGRID; 120965; 51.
DR   ComplexPortal; CPX-6322; Mitochondrial complex I intermediate assembly (MCIA) complex.
DR   IntAct; Q8IUX1; 19.
DR   MINT; Q8IUX1; -.
DR   STRING; 9606.ENSP00000351737; -.
DR   TCDB; 9.B.317.1.1; the complex i integral membrane chaperone, tmem126 (tmem126) family.
DR   iPTMnet; Q8IUX1; -.
DR   PhosphoSitePlus; Q8IUX1; -.
DR   SwissPalm; Q8IUX1; -.
DR   BioMuta; TMEM126B; -.
DR   DMDM; 134035041; -.
DR   EPD; Q8IUX1; -.
DR   jPOST; Q8IUX1; -.
DR   MassIVE; Q8IUX1; -.
DR   MaxQB; Q8IUX1; -.
DR   PaxDb; Q8IUX1; -.
DR   PeptideAtlas; Q8IUX1; -.
DR   PRIDE; Q8IUX1; -.
DR   ProteomicsDB; 70618; -. [Q8IUX1-1]
DR   ProteomicsDB; 70619; -. [Q8IUX1-2]
DR   ProteomicsDB; 70620; -. [Q8IUX1-3]
DR   ProteomicsDB; 70621; -. [Q8IUX1-4]
DR   ProteomicsDB; 70622; -. [Q8IUX1-5]
DR   Antibodypedia; 17580; 56 antibodies from 13 providers.
DR   DNASU; 55863; -.
DR   Ensembl; ENST00000358867.11; ENSP00000351737.7; ENSG00000171204.13. [Q8IUX1-1]
DR   Ensembl; ENST00000393375.5; ENSP00000377039.1; ENSG00000171204.13. [Q8IUX1-5]
DR   Ensembl; ENST00000534341.1; ENSP00000433471.1; ENSG00000171204.13. [Q8IUX1-4]
DR   GeneID; 55863; -.
DR   KEGG; hsa:55863; -.
DR   MANE-Select; ENST00000358867.11; ENSP00000351737.7; NM_018480.7; NP_060950.3.
DR   UCSC; uc001pao.4; human. [Q8IUX1-1]
DR   CTD; 55863; -.
DR   DisGeNET; 55863; -.
DR   GeneCards; TMEM126B; -.
DR   HGNC; HGNC:30883; TMEM126B.
DR   HPA; ENSG00000171204; Low tissue specificity.
DR   MalaCards; TMEM126B; -.
DR   MIM; 615533; gene.
DR   MIM; 618250; phenotype.
DR   neXtProt; NX_Q8IUX1; -.
DR   OpenTargets; ENSG00000171204; -.
DR   Orphanet; 2609; Isolated complex I deficiency.
DR   PharmGKB; PA143485646; -.
DR   VEuPathDB; HostDB:ENSG00000171204; -.
DR   eggNOG; ENOG502SQEZ; Eukaryota.
DR   GeneTree; ENSGT00520000055616; -.
DR   HOGENOM; CLU_105475_0_0_1; -.
DR   InParanoid; Q8IUX1; -.
DR   OMA; QHYARFE; -.
DR   OrthoDB; 1358177at2759; -.
DR   PhylomeDB; Q8IUX1; -.
DR   TreeFam; TF327069; -.
DR   PathwayCommons; Q8IUX1; -.
DR   Reactome; R-HSA-6799198; Complex I biogenesis.
DR   SignaLink; Q8IUX1; -.
DR   BioGRID-ORCS; 55863; 36 hits in 1089 CRISPR screens.
DR   ChiTaRS; TMEM126B; human.
DR   GeneWiki; TMEM126B; -.
DR   GenomeRNAi; 55863; -.
DR   Pharos; Q8IUX1; Tbio.
DR   PRO; PR:Q8IUX1; -.
DR   Proteomes; UP000005640; Chromosome 11.
DR   RNAct; Q8IUX1; protein.
DR   Bgee; ENSG00000171204; Expressed in pigmented layer of retina and 201 other tissues.
DR   ExpressionAtlas; Q8IUX1; baseline and differential.
DR   Genevisible; Q8IUX1; HS.
DR   GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
DR   GO; GO:0005743; C:mitochondrial inner membrane; TAS:Reactome.
DR   GO; GO:0005739; C:mitochondrion; IDA:HPA.
DR   GO; GO:0032981; P:mitochondrial respiratory chain complex I assembly; IMP:UniProtKB.
DR   InterPro; IPR009801; TMEM126.
DR   PANTHER; PTHR16296; PTHR16296; 1.
DR   Pfam; PF07114; TMEM126; 1.
PE   1: Evidence at protein level;
KW   Alternative splicing; Chaperone; Disease variant; Membrane; Mitochondrion;
KW   Phosphoprotein; Primary mitochondrial disease; Reference proteome;
KW   Transmembrane; Transmembrane helix.
FT   INIT_MET        1
FT                   /note="Removed"
FT                   /evidence="ECO:0007744|PubMed:25944712"
FT   CHAIN           2..230
FT                   /note="Complex I assembly factor TMEM126B, mitochondrial"
FT                   /id="PRO_0000280716"
FT   TRANSMEM        72..92
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        110..130
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        141..161
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        199..219
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   MOD_RES         34
FT                   /note="Phosphoserine"
FT                   /evidence="ECO:0007744|PubMed:23186163"
FT   VAR_SEQ         1..30
FT                   /note="Missing (in isoform 3 and isoform 5)"
FT                   /evidence="ECO:0000303|PubMed:14702039,
FT                   ECO:0000303|PubMed:15489334"
FT                   /id="VSP_023870"
FT   VAR_SEQ         1..18
FT                   /note="Missing (in isoform 2)"
FT                   /evidence="ECO:0000303|PubMed:10931946"
FT                   /id="VSP_023871"
FT   VAR_SEQ         19
FT                   /note="P -> MWIQVWMT (in isoform 2)"
FT                   /evidence="ECO:0000303|PubMed:10931946"
FT                   /id="VSP_023872"
FT   VAR_SEQ         133..140
FT                   /note="DNISKENC -> GEFKFTNV (in isoform 3)"
FT                   /evidence="ECO:0000303|PubMed:15489334"
FT                   /id="VSP_023873"
FT   VAR_SEQ         141..230
FT                   /note="Missing (in isoform 3)"
FT                   /evidence="ECO:0000303|PubMed:15489334"
FT                   /id="VSP_023874"
FT   VAR_SEQ         171..230
FT                   /note="Missing (in isoform 4)"
FT                   /evidence="ECO:0000303|PubMed:15489334"
FT                   /id="VSP_023875"
FT   VARIANT         70..230
FT                   /note="Missing (in MC1DN29; loss of function in complex I
FT                   assembly)"
FT                   /evidence="ECO:0000269|PubMed:27374773"
FT                   /id="VAR_081464"
FT   VARIANT         198
FT                   /note="A -> V (in dbSNP:rs17850847)"
FT                   /evidence="ECO:0000269|PubMed:15489334"
FT                   /id="VAR_031188"
FT   VARIANT         212
FT                   /note="G -> V (in MC1DN29; decreased function in complex I
FT                   assembly; dbSNP:rs141542003)"
FT                   /evidence="ECO:0000269|PubMed:27374773,
FT                   ECO:0000269|PubMed:27374774"
FT                   /id="VAR_081465"
SQ   SEQUENCE   230 AA;  25943 MW;  B0EB374211C3CF52 CRC64;
     MVVFGYEAGT KPRDSGVVPV GTEEAPKVFK MAASMHGQPS PSLEDAKLRR PMVIEIIEKN
     FDYLRKEMTQ NIYQMATFGT TAGFSGIFSN FLFRRCFKVK HDALKTYASL ATLPFLSTVV
     TDKLFVIDAL YSDNISKENC VFRSSLIGIV CGVFYPSSLA FTKNGRLATK YHTVPLPPKG
     RVLIHWMTLC QTQMKLMAIP LVFQIMFGIL NGLYHYAVFE ETLEKTIHEE
 
 
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