ID NDUF6_HUMAN Reviewed; 333 AA. AC Q330K2; A8MT28; A8MWF0; B4DQ45; Q8N6U6; DT 26-JUN-2007, integrated into UniProtKB/Swiss-Prot. DT 08-APR-2008, sequence version 2. DT 24-JAN-2024, entry version 132. DE RecName: Full=NADH dehydrogenase (ubiquinone) complex I, assembly factor 6; DE AltName: Full=Putative phytoene synthase; DE Flags: Precursor; GN Name=NDUFAF6; Synonyms=C8orf38; 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 [MRNA] (ISOFORM 3). RA Zheng H., Xie Y., Mao Y.; RT "Cloning of a novel putative phytoene synthase."; RL Submitted (OCT-2003) to the EMBL/GenBank/DDBJ databases. RN [2] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RX PubMed=16421571; DOI=10.1038/nature04406; RA Nusbaum C., Mikkelsen T.S., Zody M.C., Asakawa S., Taudien S., Garber M., RA Kodira C.D., Schueler M.G., Shimizu A., Whittaker C.A., Chang J.L., RA Cuomo C.A., Dewar K., FitzGerald M.G., Yang X., Allen N.R., Anderson S., RA Asakawa T., Blechschmidt K., Bloom T., Borowsky M.L., Butler J., Cook A., RA Corum B., DeArellano K., DeCaprio D., Dooley K.T., Dorris L. III, RA Engels R., Gloeckner G., Hafez N., Hagopian D.S., Hall J.L., Ishikawa S.K., RA Jaffe D.B., Kamat A., Kudoh J., Lehmann R., Lokitsang T., Macdonald P., RA Major J.E., Matthews C.D., Mauceli E., Menzel U., Mihalev A.H., RA Minoshima S., Murayama Y., Naylor J.W., Nicol R., Nguyen C., O'Leary S.B., RA O'Neill K., Parker S.C.J., Polley A., Raymond C.K., Reichwald K., RA Rodriguez J., Sasaki T., Schilhabel M., Siddiqui R., Smith C.L., RA Sneddon T.P., Talamas J.A., Tenzin P., Topham K., Venkataraman V., Wen G., RA Yamazaki S., Young S.K., Zeng Q., Zimmer A.R., Rosenthal A., Birren B.W., RA Platzer M., Shimizu N., Lander E.S.; RT "DNA sequence and analysis of human chromosome 8."; RL Nature 439:331-335(2006). RN [3] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RA Mural R.J., Istrail S., Sutton G.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 [4] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). RC TISSUE=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 [5] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 20-322 (ISOFORM 1). 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 [6] RP FUNCTION, AND VARIANT MC1DN17 ARG-99. RX PubMed=18614015; DOI=10.1016/j.cell.2008.06.016; RA Pagliarini D.J., Calvo S.E., Chang B., Sheth S.A., Vafai S.B., Ong S.E., RA Walford G.A., Sugiana C., Boneh A., Chen W.K., Hill D.E., Vidal M., RA Evans J.G., Thorburn D.R., Carr S.A., Mootha V.K.; RT "A mitochondrial protein compendium elucidates complex I disease biology."; RL Cell 134:112-123(2008). RN [7] RP SUBCELLULAR LOCATION, FUNCTION, AND CHARACTERIZATION OF VARIANT MC1DN17 RP ARG-99. RX PubMed=22019594; DOI=10.1016/j.jmb.2011.10.012; RA McKenzie M., Tucker E.J., Compton A.G., Lazarou M., George C., RA Thorburn D.R., Ryan M.T.; RT "Mutations in the gene encoding C8orf38 block complex I assembly by RT inhibiting production of the mitochondria-encoded subunit ND1."; RL J. Mol. Biol. 414:413-426(2011). RN [8] RP IDENTIFICATION 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 [9] RP TISSUE SPECIFICITY, INVOLVEMENT IN FRTS5, AND ALTERNATIVE SPLICING. RX PubMed=27466185; DOI=10.1093/hmg/ddw245; RA Hartmannova H., Piherova L., Tauchmannova K., Kidd K., Acott P.D., RA Crocker J.F., Oussedik Y., Mallet M., Hodanova K., Stranecky V., RA Pristoupilova A., Baresova V., Jedlickova I., Zivna M., Sovova J., RA Hulkova H., Robins V., Vrbacky M., Pecina P., Kaplanova V., Houstek J., RA Mracek T., Thibeault Y., Bleyer A.J., Kmoch S.; RT "Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory RT chain complex I deficiency due to a non-coding mutation in complex I RT assembly factor NDUFAF6."; RL Hum. Mol. Genet. 25:4062-4079(2016). RN [10] RP INVOLVEMENT IN MC1DN17, AND VARIANTS MC1DN17 VAL-69; PRO-76; THR-124; RP ASP-269 AND GLY-274. RX PubMed=26741492; DOI=10.1371/journal.pgen.1005679; RA Kohda M., Tokuzawa Y., Kishita Y., Nyuzuki H., Moriyama Y., Mizuno Y., RA Hirata T., Yatsuka Y., Yamashita-Sugahara Y., Nakachi Y., Kato H., RA Okuda A., Tamaru S., Borna N.N., Banshoya K., Aigaki T., Sato-Miyata Y., RA Ohnuma K., Suzuki T., Nagao A., Maehata H., Matsuda F., Higasa K., RA Nagasaki M., Yasuda J., Yamamoto M., Fushimi T., Shimura M., RA Kaiho-Ichimoto K., Harashima H., Yamazaki T., Mori M., Murayama K., RA Ohtake A., Okazaki Y.; RT "A comprehensive genomic analysis reveals the genetic landscape of RT mitochondrial respiratory chain complex deficiencies."; RL PLoS Genet. 12:E1005679-E1005679(2016). RN [11] RP VARIANT MC1DN17 PRO-178. RX PubMed=27623250; DOI=10.1016/j.ymgme.2016.09.001; RA Bianciardi L., Imperatore V., Fernandez-Vizarra E., Lopomo A., RA Falabella M., Furini S., Galluzzi P., Grosso S., Zeviani M., Renieri A., RA Mari F., Frullanti E.; RT "Exome sequencing coupled with mRNA analysis identifies NDUFAF6 as a Leigh RT gene."; RL Mol. Genet. Metab. 119:214-222(2016). RN [12] RP VARIANT MC1DN17 PRO-178. RX PubMed=29531337; DOI=10.1038/s10038-018-0423-1; RA Catania A., Ardissone A., Verrigni D., Legati A., Reyes A., Lamantea E., RA Diodato D., Tonduti D., Imperatore V., Pinto A.M., Moroni I., Bertini E., RA Robinson A., Carrozzo R., Zeviani M., Ghezzi D.; RT "Compound heterozygous missense and deep intronic variants in NDUFAF6 RT unraveled by exome sequencing and mRNA analysis."; RL J. Hum. Genet. 63:563-568(2018). RN [13] RP VARIANT MC1DN17 THR-124. RX PubMed=30642748; DOI=10.1016/j.ymgme.2019.01.001; RA Baide-Mairena H., Gaudo P., Marti-Sanchez L., Emperador S., RA Sanchez-Montanez A., Alonso-Luengo O., Correa M., Grau A.M., RA Ortigoza-Escobar J.D., Artuch R., Vazquez E., Del Toro M., RA Garrido-Perez N., Ruiz-Pesini E., Montoya J., Bayona-Bafaluy M.P., RA Perez-Duenas B.; RT "Mutations in the mitochondrial complex I assembly factor NDUFAF6 cause RT isolated bilateral striatal necrosis and progressive dystonia in RT childhood."; RL Mol. Genet. Metab. 126:250-258(2019). CC -!- FUNCTION: Involved in the assembly of mitochondrial NADH:ubiquinone CC oxidoreductase complex (complex I) at early stages. May play a role in CC the biogenesis of complex I subunit MT-ND1. CC {ECO:0000269|PubMed:18614015, ECO:0000269|PubMed:22019594}. CC -!- INTERACTION: CC Q330K2-3; Q96NT3-2: GUCD1; NbExp=3; IntAct=EBI-12957691, EBI-11978177; CC Q330K2-3; P32242: OTX1; NbExp=3; IntAct=EBI-12957691, EBI-740446; CC -!- SUBCELLULAR LOCATION: [Isoform 1]: Mitochondrion inner membrane. CC Note=Peripherally localized on the matrix face of the mitochondrial CC inner membrane. CC -!- SUBCELLULAR LOCATION: [Isoform 2]: Cytoplasm. Nucleus. CC -!- ALTERNATIVE PRODUCTS: CC Event=Alternative splicing; Named isoforms=3; CC Comment=Additional isoforms seem to exist. CC {ECO:0000269|PubMed:27466185}; CC Name=1; CC IsoId=Q330K2-1; Sequence=Displayed; CC Name=2; CC IsoId=Q330K2-2; Sequence=VSP_026230; CC Name=3; CC IsoId=Q330K2-3; Sequence=VSP_026231, VSP_026232; CC -!- TISSUE SPECIFICITY: Widely expressed. A lower expression is observed in CC lung and kidney compared to heart, muscle and liver (PubMed:27466185). CC In the kidney, expression is high in the basal zone of the proximal CC tubular cells (PubMed:27466185). {ECO:0000269|PubMed:27466185}. CC -!- DISEASE: Mitochondrial complex I deficiency, nuclear type 17 (MC1DN17) CC [MIM:618239]: 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. MC1DN17 transmission pattern is consistent with CC autosomal recessive inheritance. {ECO:0000269|PubMed:18614015, CC ECO:0000269|PubMed:22019594, ECO:0000269|PubMed:26741492, CC ECO:0000269|PubMed:27623250, ECO:0000269|PubMed:29531337, CC ECO:0000269|PubMed:30642748}. Note=The disease is caused by variants CC affecting the gene represented in this entry. CC -!- DISEASE: Fanconi renotubular syndrome 5 (FRTS5) [MIM:618913]: A form of CC Fanconi renotubular syndrome, a disease due to a generalized CC dysfunction of the proximal kidney tubule resulting in decreased solute CC and water reabsorption. Patients have polydipsia and polyuria with CC phosphaturia, glycosuria and aminoaciduria. They may develop CC hypophosphatemic rickets or osteomalacia, acidosis and a tendency CC toward dehydration. Some eventually develop renal insufficiency. FRTS5 CC is an autosomal recessive mitochondrial disorder characterized by CC proximal renotubular dysfunction from birth, followed by progressive CC kidney disease and pulmonary fibrosis. {ECO:0000269|PubMed:27466185}. CC Note=The disease is caused by variants affecting the gene represented CC in this entry. A homozygous disease-causing variant located in intron 2 CC leads to aberrant splicing and altered isoform synthesis. Kidney and CC lung tissues from affected individuals show specific loss of CC mitochondrial isoform 1. Patient cells show defects in mitochondrial CC complex I assembly and altered mitochondrial respiration. CC {ECO:0000269|PubMed:27466185}. CC -!- SIMILARITY: Belongs to the NDUFAF6 family. {ECO:0000305}. CC -!- SEQUENCE CAUTION: CC Sequence=BAG60807.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; CC Sequence=EAW91734.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- DR EMBL; AY444560; AAS68536.1; -; mRNA. DR EMBL; AC087752; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; CH471060; EAW91734.1; ALT_SEQ; Genomic_DNA. DR EMBL; BC028166; AAH28166.1; -; mRNA. DR EMBL; AK298631; BAG60807.1; ALT_INIT; mRNA. DR CCDS; CCDS6266.2; -. [Q330K2-1] DR RefSeq; NP_001317511.1; NM_001330582.1. DR RefSeq; NP_689629.2; NM_152416.3. [Q330K2-1] DR RefSeq; XP_011515135.1; XM_011516833.2. DR RefSeq; XP_011515136.1; XM_011516834.2. DR RefSeq; XP_011515137.1; XM_011516835.2. DR RefSeq; XP_011515138.1; XM_011516836.2. DR RefSeq; XP_011515139.1; XM_011516837.2. DR RefSeq; XP_011515140.1; XM_011516838.2. DR RefSeq; XP_011515141.1; XM_011516839.2. DR RefSeq; XP_011515142.1; XM_011516840.2. DR RefSeq; XP_011515143.1; XM_011516841.2. DR RefSeq; XP_011515144.1; XM_011516842.2. DR RefSeq; XP_016868516.1; XM_017013027.1. DR RefSeq; XP_016868517.1; XM_017013028.1. DR RefSeq; XP_016868518.1; XM_017013029.1. DR RefSeq; XP_016868519.1; XM_017013030.1. DR RefSeq; XP_016868520.1; XM_017013031.1. DR RefSeq; XP_016868521.1; XM_017013032.1. DR RefSeq; XP_016868522.1; XM_017013033.1. DR AlphaFoldDB; Q330K2; -. DR SMR; Q330K2; -. DR BioGRID; 126481; 8. DR IntAct; Q330K2; 3. DR STRING; 9606.ENSP00000379430; -. DR iPTMnet; Q330K2; -. DR PhosphoSitePlus; Q330K2; -. DR BioMuta; NDUFAF6; -. DR DMDM; 182676420; -. DR EPD; Q330K2; -. DR jPOST; Q330K2; -. DR MassIVE; Q330K2; -. DR MaxQB; Q330K2; -. DR PaxDb; 9606-ENSP00000379430; -. DR PeptideAtlas; Q330K2; -. DR ProteomicsDB; 61636; -. [Q330K2-1] DR ProteomicsDB; 61637; -. [Q330K2-2] DR ProteomicsDB; 61638; -. [Q330K2-3] DR Pumba; Q330K2; -. DR Antibodypedia; 63909; 18 antibodies from 7 providers. DR DNASU; 137682; -. DR Ensembl; ENST00000396124.9; ENSP00000379430.4; ENSG00000156170.14. [Q330K2-1] DR Ensembl; ENST00000518258.5; ENSP00000428788.1; ENSG00000156170.14. [Q330K2-3] DR Ensembl; ENST00000523337.5; ENSP00000429038.1; ENSG00000156170.14. [Q330K2-3] DR GeneID; 137682; -. DR KEGG; hsa:137682; -. DR MANE-Select; ENST00000396124.9; ENSP00000379430.4; NM_152416.4; NP_689629.2. DR UCSC; uc003yhj.4; human. [Q330K2-1] DR AGR; HGNC:28625; -. DR CTD; 137682; -. DR DisGeNET; 137682; -. DR GeneCards; NDUFAF6; -. DR HGNC; HGNC:28625; NDUFAF6. DR HPA; ENSG00000156170; Low tissue specificity. DR MalaCards; NDUFAF6; -. DR MIM; 612392; gene. DR MIM; 618239; phenotype. DR MIM; 618913; phenotype. DR neXtProt; NX_Q330K2; -. DR OpenTargets; ENSG00000156170; -. DR Orphanet; 3337; Primary Fanconi renotubular syndrome. DR PharmGKB; PA142672357; -. DR VEuPathDB; HostDB:ENSG00000156170; -. DR eggNOG; KOG4411; Eukaryota. DR GeneTree; ENSGT00510000048688; -. DR HOGENOM; CLU_037269_6_0_1; -. DR InParanoid; Q330K2; -. DR OMA; RKFWLAW; -. DR OrthoDB; 1217049at2759; -. DR PhylomeDB; Q330K2; -. DR TreeFam; TF300084; -. DR PathwayCommons; Q330K2; -. DR Reactome; R-HSA-6799198; Complex I biogenesis. DR SignaLink; Q330K2; -. DR BioGRID-ORCS; 137682; 79 hits in 1165 CRISPR screens. DR ChiTaRS; NDUFAF6; human. DR GenomeRNAi; 137682; -. DR Pharos; Q330K2; Tbio. DR PRO; PR:Q330K2; -. DR Proteomes; UP000005640; Chromosome 8. DR RNAct; Q330K2; Protein. DR Bgee; ENSG00000156170; Expressed in right uterine tube and 169 other cell types or tissues. DR ExpressionAtlas; Q330K2; baseline and differential. DR GO; GO:0005737; C:cytoplasm; IDA:UniProtKB. DR GO; GO:0005743; C:mitochondrial inner membrane; IDA:UniProtKB. DR GO; GO:0005739; C:mitochondrion; IBA:GO_Central. DR GO; GO:0005634; C:nucleus; IDA:UniProtKB. DR GO; GO:0009058; P:biosynthetic process; IEA:InterPro. DR GO; GO:0032981; P:mitochondrial respiratory chain complex I assembly; IMP:UniProtKB. DR Gene3D; 1.10.600.10; Farnesyl Diphosphate Synthase; 1. DR InterPro; IPR008949; Isoprenoid_synthase_dom_sf. DR InterPro; IPR002060; Squ/phyt_synthse. DR PANTHER; PTHR21181; -; 1. DR PANTHER; PTHR21181:SF13; NADH DEHYDROGENASE (UBIQUINONE) COMPLEX I, ASSEMBLY FACTOR 6; 1. DR Pfam; PF00494; SQS_PSY; 1. DR SUPFAM; SSF48576; Terpenoid synthases; 1. DR Genevisible; Q330K2; HS. PE 1: Evidence at protein level; KW Alternative splicing; Cytoplasm; Disease variant; Membrane; Mitochondrion; KW Mitochondrion inner membrane; Nucleus; Primary mitochondrial disease; KW Reference proteome; Transit peptide. FT TRANSIT 1..44 FT /note="Mitochondrion" FT /evidence="ECO:0000255" FT CHAIN 45..333 FT /note="NADH dehydrogenase (ubiquinone) complex I, assembly FT factor 6" FT /id="PRO_0000291772" FT VAR_SEQ 1..65 FT /note="MAASAHGSVWGPLRLGIPGLCCRRPPLGLYARMRRLPGPEVSGRSVAAASGP FT GAWGTDHYCLELL -> MPISISHSSWLVQ (in isoform 2)" FT /evidence="ECO:0000303|PubMed:15489334" FT /id="VSP_026230" FT VAR_SEQ 100..120 FT /note="VKDSVSEKTIGLMRMQFWKKT -> AGLLLLLSCCTVCHWDLNTKHC (in FT isoform 3)" FT /evidence="ECO:0000303|Ref.1" FT /id="VSP_026231" FT VAR_SEQ 121..333 FT /note="Missing (in isoform 3)" FT /evidence="ECO:0000303|Ref.1" FT /id="VSP_026232" FT VARIANT 69 FT /note="D -> V (in MC1DN17; dbSNP:rs1057519085)" FT /evidence="ECO:0000269|PubMed:26741492" FT /id="VAR_076272" FT VARIANT 76 FT /note="S -> P (in MC1DN17; dbSNP:rs1057519084)" FT /evidence="ECO:0000269|PubMed:26741492" FT /id="VAR_076273" FT VARIANT 99 FT /note="Q -> R (in MC1DN17; dbSNP:rs137853184)" FT /evidence="ECO:0000269|PubMed:18614015, FT ECO:0000269|PubMed:22019594" FT /id="VAR_047770" FT VARIANT 124 FT /note="I -> T (in MC1DN17; dbSNP:rs201732170)" FT /evidence="ECO:0000269|PubMed:26741492, FT ECO:0000269|PubMed:30642748" FT /id="VAR_076274" FT VARIANT 178 FT /note="A -> P (in MC1DN17; dbSNP:rs201088736)" FT /evidence="ECO:0000269|PubMed:27623250, FT ECO:0000269|PubMed:29531337" FT /id="VAR_084382" FT VARIANT 269 FT /note="H -> D (in MC1DN17; dbSNP:rs768273248)" FT /evidence="ECO:0000269|PubMed:26741492" FT /id="VAR_076275" FT VARIANT 274 FT /note="R -> G (in MC1DN17; dbSNP:rs1057519086)" FT /evidence="ECO:0000269|PubMed:26741492" FT /id="VAR_076276" SQ SEQUENCE 333 AA; 38176 MW; 1D3521A817F4B4BB CRC64; MAASAHGSVW GPLRLGIPGL CCRRPPLGLY ARMRRLPGPE VSGRSVAAAS GPGAWGTDHY CLELLRKRDY EGYLCSLLLP AESRSSVFAL RAFNVELAQV KDSVSEKTIG LMRMQFWKKT VEDIYCDNPP HQPVAIELWK AVKRHNLTKR WLMKIVDERE KNLDDKAYRN IKELENYAEN TQSSLLYLTL EILGIKDLHA DHAASHIGKA QGIVTCLRAT PYHGSRRKVF LPMDICMLHG VSQEDFLRRN QDKNVRDVIY DIASQAHLHL KHARSFHKTV PVKAFPAFLQ TVSLEDFLKK IQRVDFDIFH PSLQQKNTLL PLYLYIQSWR KTY //