COX1_HUMAN
ID COX1_HUMAN Reviewed; 513 AA.
AC P00395; Q34770;
DT 21-JUL-1986, integrated into UniProtKB/Swiss-Prot.
DT 21-JUL-1986, sequence version 1.
DT 03-AUG-2022, entry version 215.
DE RecName: Full=Cytochrome c oxidase subunit 1;
DE EC=7.1.1.9;
DE AltName: Full=Cytochrome c oxidase polypeptide I;
GN Name=MT-CO1; Synonyms=COI, COXI, MTCO1;
OS Homo sapiens (Human).
OG Mitochondrion.
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 GENOMIC DNA].
RX PubMed=7219534; DOI=10.1038/290457a0;
RA Anderson S., Bankier A.T., Barrell B.G., de Bruijn M.H.L., Coulson A.R.,
RA Drouin J., Eperon I.C., Nierlich D.P., Roe B.A., Sanger F., Schreier P.H.,
RA Smith A.J.H., Staden R., Young I.G.;
RT "Sequence and organization of the human mitochondrial genome.";
RL Nature 290:457-465(1981).
RN [2]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA], AND VARIANTS SER-235 AND ALA-415.
RC TISSUE=Placenta;
RX PubMed=7530363; DOI=10.1073/pnas.92.2.532;
RA Horai S., Hayasaka K., Kondo R., Tsugane K., Takahata N.;
RT "Recent African origin of modern humans revealed by complete sequences of
RT hominoid mitochondrial DNAs.";
RL Proc. Natl. Acad. Sci. U.S.A. 92:532-536(1995).
RN [3]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RX PubMed=12949126; DOI=10.1093/molbev/msg230;
RA Moilanen J.S., Finnila S., Majamaa K.;
RT "Lineage-specific selection in human mtDNA: lack of polymorphisms in a
RT segment of MTND5 gene in haplogroup J.";
RL Mol. Biol. Evol. 20:2132-2142(2003).
RN [4]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RX PubMed=11130070; DOI=10.1038/35047064;
RA Ingman M., Kaessmann H., Paeaebo S., Gyllensten U.;
RT "Mitochondrial genome variation and the origin of modern humans.";
RL Nature 408:708-713(2000).
RN [5]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RX PubMed=12840039; DOI=10.1101/gr.686603;
RA Ingman M., Gyllensten U.;
RT "Mitochondrial genome variation and evolutionary history of Australian and
RT New Guinean aborigines.";
RL Genome Res. 13:1600-1606(2003).
RN [6]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA].
RX PubMed=14760490; DOI=10.1007/s00414-004-0427-6;
RA Coble M.D., Just R.S., O'Callaghan J.E., Letmanyi I.H., Peterson C.T.,
RA Irwin J.A., Parsons T.J.;
RT "Single nucleotide polymorphisms over the entire mtDNA genome that increase
RT the power of forensic testing in Caucasians.";
RL Int. J. Legal Med. 118:137-146(2004).
RN [7]
RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-187.
RX PubMed=6260957; DOI=10.1016/0022-2836(80)90196-5;
RA Sanger F., Coulson A.R., Barrell B.G., Smith A.J.H., Roe B.A.;
RT "Cloning in single-stranded bacteriophage as an aid to rapid DNA
RT sequencing.";
RL J. Mol. Biol. 143:161-178(1980).
RN [8]
RP INVOLVEMENT IN DFNM.
RX PubMed=10577941; DOI=10.1086/302658;
RA Pandya A., Xia X.J., Erdenetungalag R., Amendola M., Landa B.,
RA Radnaabazar J., Dangaasuren B., Van Tuyle G., Nance W.E.;
RT "Heterogenous point mutations in the mitochondrial tRNA Ser(UCN) precursor
RT coexisting with the A1555G mutation in deaf students from Mongolia.";
RL Am. J. Hum. Genet. 65:1803-1806(1999).
RN [9]
RP INTERACTION WITH COA3 AND SMIM20.
RX PubMed=26321642; DOI=10.1016/j.celrep.2015.08.009;
RA Dennerlein S., Oeljeklaus S., Jans D., Hellwig C., Bareth B., Jakobs S.,
RA Deckers M., Warscheid B., Rehling P.;
RT "MITRAC7 acts as a COX1-specific chaperone and reveals a checkpoint during
RT cytochrome c oxidase assembly.";
RL Cell Rep. 12:1644-1655(2015).
RN [10]
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 [11]
RP INTERACTION WITH TMEM177.
RX PubMed=29154948; DOI=10.1016/j.bbamcr.2017.11.010;
RA Lorenzi I., Oeljeklaus S., Aich A., Ronsoer C., Callegari S., Dudek J.,
RA Warscheid B., Dennerlein S., Rehling P.;
RT "The mitochondrial TMEM177 associates with COX20 during COX2 biogenesis.";
RL Biochim. Biophys. Acta 1865:323-333(2017).
RN [12]
RP STRUCTURE BY ELECTRON MICROSCOPY (3.90 ANGSTROMS), AND SUBUNIT.
RX PubMed=28844695; DOI=10.1016/j.cell.2017.07.050;
RA Guo R., Zong S., Wu M., Gu J., Yang M.;
RT "Architecture of human mitochondrial respiratory megacomplex I2III2IV2.";
RL Cell 170:1247-1257(2017).
RN [13]
RP STRUCTURE BY ELECTRON MICROSCOPY (3.60 ANGSTROMS).
RX PubMed=30030519; DOI=10.1038/s41422-018-0071-1;
RA Zong S., Wu M., Gu J., Liu T., Guo R., Yang M.;
RT "Structure of the intact 14-subunit human cytochrome c oxidase.";
RL Cell Res. 28:1026-1034(2018).
RN [14]
RP VARIANTS ALA-10; CYS-94; LEU-155; ALA-224 AND LEU-305.
RX PubMed=1757091; DOI=10.1007/bf00206061;
RA Marzuki S., Noer A.S., Lertrit P., Thyagarajan D., Kapsa R.,
RA Utthanaphol P., Byrne E.;
RT "Normal variants of human mitochondrial DNA and translation products: the
RT building of a reference data base.";
RL Hum. Genet. 88:139-145(1991).
RN [15]
RP VARIANT LHON LYS-GLN-LYS-513 INS.
RX PubMed=1322638;
RA Brown M.D., Yang C.-C., Trounce I., Torroni A., Lott M.T., Wallace D.C.;
RT "A mitochondrial DNA variant, identified in Leber hereditary optic
RT neuropathy patients, which extends the amino acid sequence of cytochrome c
RT oxidase subunit I.";
RL Am. J. Hum. Genet. 51:378-385(1992).
RN [16]
RP VARIANTS THR-273 AND THR-280, AND POSSIBLE INVOLVEMENT IN ACQUIRED
RP IDIOPATHIC SIDEROBLASTIC ANEMIA.
RX PubMed=9389715;
RA Gattermann N., Retzlaff S., Wang Y.L., Hofhaus G., Heinisch J., Aul C.,
RA Schneider W.;
RT "Heteroplasmic point mutations of mitochondrial DNA affecting subunit I of
RT cytochrome c oxidase in two patients with acquired idiopathic sideroblastic
RT anemia.";
RL Blood 90:4961-4972(1997).
RN [17]
RP VARIANTS THR-273 AND THR-280, AND POSSIBLE INVOLVEMENT IN ACQUIRED
RP IDIOPATHIC SIDEROBLASTIC ANEMIA.
RX PubMed=9851701; DOI=10.1046/j.1432-1327.1998.2580132.x;
RA Broker S., Meunier B., Rich P., Gattermann N., Hofhaus G.;
RT "MtDNA mutations associated with sideroblastic anaemia cause a defect of
RT mitochondrial cytochrome c oxidase.";
RL Eur. J. Biochem. 258:132-138(1998).
RN [18]
RP INVOLVEMENT IN RM-MT.
RX PubMed=10980727; DOI=10.1212/wnl.55.5.644;
RA Karadimas C.L., Greenstein P., Sue C.M., Joseph J.T., Tanji K.,
RA Haller R.G., Taivassalo T., Davidson M.M., Shanske S., Bonilla E.,
RA DiMauro S.;
RT "Recurrent myoglobinuria due to a nonsense mutation in the COX I gene of
RT mitochondrial DNA.";
RL Neurology 55:644-649(2000).
RN [19]
RP VARIANT MT-C4D ILE-196.
RX PubMed=12140182; DOI=10.1093/hmg/11.16.1797;
RA Varlamov D.A., Kudin A.P., Vielhaber S., Schroeder R., Sassen R.,
RA Becker A., Kunz D., Haug K., Rebstock J., Heils A., Elger C.E., Kunz W.S.;
RT "Metabolic consequences of a novel missense mutation of the mtDNA CO I
RT gene.";
RL Hum. Mol. Genet. 11:1797-1805(2002).
RN [20]
RP VARIANT MT-C4D PHE-142, AND CHARACTERIZATION OF VARIANT MT-C4D PHE-142.
RX PubMed=16284789; DOI=10.1007/s10048-005-0015-z;
RA Lucioli S., Hoffmeier K., Carrozzo R., Tessa A., Ludwig B.,
RA Santorelli F.M.;
RT "Introducing a novel human mtDNA mutation into the Paracoccus denitrificans
RT COX I gene explains functional deficits in a patient.";
RL Neurogenetics 7:51-57(2006).
RN [21]
RP VARIANTS CRC ASP-125 AND PRO-458.
RX PubMed=16407113; DOI=10.1073/pnas.0505903103;
RA Greaves L.C., Preston S.L., Tadrous P.J., Taylor R.W., Barron M.J.,
RA Oukrif D., Leedham S.J., Deheragoda M., Sasieni P., Novelli M.R.,
RA Jankowski J.A.Z., Turnbull D.M., Wright N.A., McDonald S.A.C.;
RT "Mitochondrial DNA mutations are established in human colonic stem cells,
RT and mutated clones expand by crypt fission.";
RL Proc. Natl. Acad. Sci. U.S.A. 103:714-719(2006).
RN [22]
RP CHARACTERIZATION OF VARIANTS CRC ASP-125 AND PRO-458.
RX PubMed=19218458; DOI=10.1073/pnas.0811450106;
RA Namslauer I., Brzezinski P.;
RT "A mitochondrial DNA mutation linked to colon cancer results in proton
RT leaks in cytochrome c oxidase.";
RL Proc. Natl. Acad. Sci. U.S.A. 106:3402-3407(2009).
CC -!- FUNCTION: Component of the cytochrome c oxidase, the last enzyme in the
CC mitochondrial electron transport chain which drives oxidative
CC phosphorylation. The respiratory chain contains 3 multisubunit
CC complexes succinate dehydrogenase (complex II, CII), ubiquinol-
CC cytochrome c oxidoreductase (cytochrome b-c1 complex, complex III,
CC CIII) and cytochrome c oxidase (complex IV, CIV), that cooperate to
CC transfer electrons derived from NADH and succinate to molecular oxygen,
CC creating an electrochemical gradient over the inner membrane that
CC drives transmembrane transport and the ATP synthase. Cytochrome c
CC oxidase is the component of the respiratory chain that catalyzes the
CC reduction of oxygen to water. Electrons originating from reduced
CC cytochrome c in the intermembrane space (IMS) are transferred via the
CC dinuclear copper A center (CU(A)) of subunit 2 and heme A of subunit 1
CC to the active site in subunit 1, a binuclear center (BNC) formed by
CC heme A3 and copper B (CU(B)). The BNC reduces molecular oxygen to 2
CC water molecules using 4 electrons from cytochrome c in the IMS and 4
CC protons from the mitochondrial matrix. {ECO:0000250|UniProtKB:P00401}.
CC -!- CATALYTIC ACTIVITY:
CC Reaction=4 Fe(II)-[cytochrome c] + 8 H(+)(in) + O2 = 4 Fe(III)-
CC [cytochrome c] + 4 H(+)(out) + 2 H2O; Xref=Rhea:RHEA:11436,
CC Rhea:RHEA-COMP:10350, Rhea:RHEA-COMP:14399, ChEBI:CHEBI:15377,
CC ChEBI:CHEBI:15378, ChEBI:CHEBI:15379, ChEBI:CHEBI:29033,
CC ChEBI:CHEBI:29034; EC=7.1.1.9;
CC Evidence={ECO:0000250|UniProtKB:P00401};
CC PhysiologicalDirection=left-to-right; Xref=Rhea:RHEA:11437;
CC Evidence={ECO:0000250|UniProtKB:P00401};
CC -!- COFACTOR:
CC Name=heme; Xref=ChEBI:CHEBI:30413;
CC Evidence={ECO:0000269|PubMed:30030519};
CC Note=Binds 2 heme A groups non-covalently per subunit.
CC {ECO:0000269|PubMed:30030519};
CC -!- COFACTOR:
CC Name=Cu cation; Xref=ChEBI:CHEBI:23378;
CC Evidence={ECO:0000269|PubMed:30030519};
CC Note=Binds a copper B center. {ECO:0000269|PubMed:30030519};
CC -!- PATHWAY: Energy metabolism; oxidative phosphorylation.
CC {ECO:0000250|UniProtKB:P00401}.
CC -!- SUBUNIT: Component of the cytochrome c oxidase (complex IV, CIV), a
CC multisubunit enzyme composed of 14 subunits. The complex is composed of
CC a catalytic core of 3 subunits MT-CO1, MT-CO2 and MT-CO3, encoded in
CC the mitochondrial DNA, and 11 supernumerary subunits COX4I1 (or
CC COX4I2), COX5A, COX5B, COX6A1 (or COX6A2), COX6B1 (or COX6B2), COX6C,
CC COX7A2 (or COX7A1), COX7B, COX7C, COX8A and NDUFA4, which are encoded
CC in the nuclear genome (PubMed:30030519). The complex exists as a
CC monomer or a dimer and forms supercomplexes (SCs) in the inner
CC mitochondrial membrane with NADH-ubiquinone oxidoreductase (complex I,
CC CI) and ubiquinol-cytochrome c oxidoreductase (cytochrome b-c1 complex,
CC complex III, CIII), resulting in different assemblies (supercomplex
CC SCI(1)III(2)IV(1) and megacomplex MCI(2)III(2)IV(2)) (PubMed:28844695).
CC As a newly synthesized protein, rapidly incorporates into a multi-
CC subunit assembly intermediate in the inner membrane, called MITRAC
CC (mitochondrial translation regulation assembly intermediate of
CC cytochrome c oxidase) complex, whose core components are COA3/MITRAC12
CC and COX14. Within the MITRAC complex, interacts with COA3 and with
CC SMIM20/MITRAC7; the interaction with SMIM20 stabilizes the newly
CC synthesized MT-CO1 and prevents its premature turnover
CC (PubMed:26321642). Interacts with TMEM177 in a COX20-dependent manner
CC (PubMed:29154948). {ECO:0000269|PubMed:26321642,
CC ECO:0000269|PubMed:28844695, ECO:0000269|PubMed:29154948,
CC ECO:0000269|PubMed:30030519}.
CC -!- INTERACTION:
CC P00395; Q9Y2R0: COA3; NbExp=11; IntAct=EBI-2117234, EBI-6570446;
CC P00395; P13073: COX4I1; NbExp=2; IntAct=EBI-2117234, EBI-1056574;
CC P00395; Q9BVV7: TIMM21; NbExp=3; IntAct=EBI-2117234, EBI-6570759;
CC -!- SUBCELLULAR LOCATION: Mitochondrion inner membrane
CC {ECO:0000269|PubMed:30030519}; Multi-pass membrane protein
CC {ECO:0000269|PubMed:30030519}.
CC -!- DISEASE: Leber hereditary optic neuropathy (LHON) [MIM:535000]: A
CC maternally inherited form of Leber hereditary optic neuropathy, a
CC mitochondrial disease resulting in bilateral painless loss of central
CC vision due to selective degeneration of the retinal ganglion cells and
CC their axons. The disorder shows incomplete penetrance and male
CC predominance. Cardiac conduction defects and neurological defects have
CC also been described in some LHON patients. LHON results from primary
CC mitochondrial DNA mutations affecting the respiratory chain complexes.
CC {ECO:0000269|PubMed:1322638}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- DISEASE: Note=MT-CO1 may play a role in the pathogenesis of acquired
CC idiopathic sideroblastic anemia, a disease characterized by inadequate
CC formation of heme and excessive accumulation of iron in mitochondria.
CC Mitochondrial iron overload may be attributable to mutations of
CC mitochondrial DNA because these can cause respiratory chain
CC dysfunction, thereby impairing reduction of ferric iron to ferrous
CC iron. The reduced form of iron is essential to the last step of
CC mitochondrial heme biosynthesis. {ECO:0000269|PubMed:9389715,
CC ECO:0000269|PubMed:9851701}.
CC -!- DISEASE: Mitochondrial complex IV deficiency (MT-C4D) [MIM:220110]: A
CC disorder of the mitochondrial respiratory chain with heterogeneous
CC clinical manifestations, ranging from isolated myopathy to severe
CC multisystem disease affecting several tissues and organs. Features
CC include hypertrophic cardiomyopathy, hepatomegaly and liver
CC dysfunction, hypotonia, muscle weakness, exercise intolerance,
CC developmental delay, delayed motor development and intellectual
CC disability. Some affected individuals manifest a fatal hypertrophic
CC cardiomyopathy resulting in neonatal death. A subset of patients
CC manifest Leigh syndrome. {ECO:0000269|PubMed:12140182,
CC ECO:0000269|PubMed:16284789}. Note=The disease is caused by variants
CC affecting the gene represented in this entry.
CC -!- DISEASE: Recurrent myoglobinuria mitochondrial (RM-MT) [MIM:550500]:
CC Recurrent myoglobinuria is characterized by recurrent attacks of
CC rhabdomyolysis (necrosis or disintegration of skeletal muscle)
CC associated with muscle pain and weakness, and followed by excretion of
CC myoglobin in the urine. {ECO:0000269|PubMed:10980727}. Note=The gene
CC represented in this entry may be involved in disease pathogenesis.
CC -!- DISEASE: Deafness, sensorineural, mitochondrial (DFNM) [MIM:500008]: A
CC form of non-syndromic deafness with maternal inheritance. Affected
CC individuals manifest progressive, postlingual, sensorineural hearing
CC loss involving high frequencies. {ECO:0000269|PubMed:10577941}.
CC Note=The disease is caused by variants affecting the gene represented
CC in this entry.
CC -!- DISEASE: Colorectal cancer (CRC) [MIM:114500]: A complex disease
CC characterized by malignant lesions arising from the inner wall of the
CC large intestine (the colon) and the rectum. Genetic alterations are
CC often associated with progression from premalignant lesion (adenoma) to
CC invasive adenocarcinoma. Risk factors for cancer of the colon and
CC rectum include colon polyps, long-standing ulcerative colitis, and
CC genetic family history. {ECO:0000269|PubMed:16407113,
CC ECO:0000269|PubMed:19218458}. Note=The gene represented in this entry
CC may be involved in disease pathogenesis.
CC -!- SIMILARITY: Belongs to the heme-copper respiratory oxidase family.
CC {ECO:0000305}.
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DR EMBL; V00662; CAA24028.1; -; Genomic_DNA.
DR EMBL; J01415; AAB58945.1; -; Genomic_DNA.
DR EMBL; D38112; BAA07292.1; -; Genomic_DNA.
DR EMBL; AY339402; AAP89038.1; -; Genomic_DNA.
DR EMBL; AY339403; AAP89051.1; -; Genomic_DNA.
DR EMBL; AY339404; AAP89064.1; -; Genomic_DNA.
DR EMBL; AY339405; AAP89077.1; -; Genomic_DNA.
DR EMBL; AY339406; AAP89090.1; -; Genomic_DNA.
DR EMBL; AY339407; AAP89103.1; -; Genomic_DNA.
DR EMBL; AY339408; AAP89116.1; -; Genomic_DNA.
DR EMBL; AY339409; AAP89129.1; -; Genomic_DNA.
DR EMBL; AY339410; AAP89142.1; -; Genomic_DNA.
DR EMBL; AY339411; AAP89155.1; -; Genomic_DNA.
DR EMBL; AY339412; AAP89168.1; -; Genomic_DNA.
DR EMBL; AY339421; AAP89285.1; -; Genomic_DNA.
DR EMBL; AY339422; AAP89298.1; -; Genomic_DNA.
DR EMBL; AY339423; AAP89311.1; -; Genomic_DNA.
DR EMBL; AY339424; AAP89324.1; -; Genomic_DNA.
DR EMBL; AY339425; AAP89337.1; -; Genomic_DNA.
DR EMBL; AY339426; AAP89350.1; -; Genomic_DNA.
DR EMBL; AY339427; AAP89363.1; -; Genomic_DNA.
DR EMBL; AY339428; AAP89376.1; -; Genomic_DNA.
DR EMBL; AY339429; AAP89389.1; -; Genomic_DNA.
DR EMBL; AY339430; AAP89402.1; -; Genomic_DNA.
DR EMBL; AY339431; AAP89415.1; -; Genomic_DNA.
DR EMBL; AY339432; AAP89428.1; -; Genomic_DNA.
DR EMBL; AY339433; AAP89441.1; -; Genomic_DNA.
DR EMBL; AY339434; AAP89454.1; -; Genomic_DNA.
DR EMBL; AY339435; AAP89467.1; -; Genomic_DNA.
DR EMBL; AY339436; AAP89480.1; -; Genomic_DNA.
DR EMBL; AY339437; AAP89493.1; -; Genomic_DNA.
DR EMBL; AY339438; AAP89506.1; -; Genomic_DNA.
DR EMBL; AY339439; AAP89519.1; -; Genomic_DNA.
DR EMBL; AY339440; AAP89532.1; -; Genomic_DNA.
DR EMBL; AY339441; AAP89545.1; -; Genomic_DNA.
DR EMBL; AY339442; AAP89558.1; -; Genomic_DNA.
DR EMBL; AY339443; AAP89571.1; -; Genomic_DNA.
DR EMBL; AY339444; AAP89584.1; -; Genomic_DNA.
DR EMBL; AY339445; AAP89597.1; -; Genomic_DNA.
DR EMBL; AY339451; AAP89675.1; -; Genomic_DNA.
DR EMBL; AY339452; AAP89688.1; -; Genomic_DNA.
DR EMBL; AY339453; AAP89701.1; -; Genomic_DNA.
DR EMBL; AY339454; AAP89714.1; -; Genomic_DNA.
DR EMBL; AY339455; AAP89727.1; -; Genomic_DNA.
DR EMBL; AY339456; AAP89740.1; -; Genomic_DNA.
DR EMBL; AY339457; AAP89753.1; -; Genomic_DNA.
DR EMBL; AY339458; AAP89766.1; -; Genomic_DNA.
DR EMBL; AY339459; AAP89779.1; -; Genomic_DNA.
DR EMBL; AY339460; AAP89792.1; -; Genomic_DNA.
DR EMBL; AY339461; AAP89805.1; -; Genomic_DNA.
DR EMBL; AY339462; AAP89818.1; -; Genomic_DNA.
DR EMBL; AY339463; AAP89831.1; -; Genomic_DNA.
DR EMBL; AY339464; AAP89844.1; -; Genomic_DNA.
DR EMBL; AY339465; AAP89857.1; -; Genomic_DNA.
DR EMBL; AY339466; AAP89870.1; -; Genomic_DNA.
DR EMBL; AY339467; AAP89883.1; -; Genomic_DNA.
DR EMBL; AY339468; AAP89896.1; -; Genomic_DNA.
DR EMBL; AY339469; AAP89909.1; -; Genomic_DNA.
DR EMBL; AY339470; AAP89922.1; -; Genomic_DNA.
DR EMBL; AY339471; AAP89935.1; -; Genomic_DNA.
DR EMBL; AY339472; AAP89948.1; -; Genomic_DNA.
DR EMBL; AY339473; AAP89961.1; -; Genomic_DNA.
DR EMBL; AY339474; AAP89974.1; -; Genomic_DNA.
DR EMBL; AY339475; AAP89987.1; -; Genomic_DNA.
DR EMBL; AY339476; AAP90000.1; -; Genomic_DNA.
DR EMBL; AY339477; AAP90013.1; -; Genomic_DNA.
DR EMBL; AY339478; AAP90026.1; -; Genomic_DNA.
DR EMBL; AY339479; AAP90039.1; -; Genomic_DNA.
DR EMBL; AY339480; AAP90052.1; -; Genomic_DNA.
DR EMBL; AY339481; AAP90065.1; -; Genomic_DNA.
DR EMBL; AY339482; AAP90078.1; -; Genomic_DNA.
DR EMBL; AY339483; AAP90091.1; -; Genomic_DNA.
DR EMBL; AY339484; AAP90104.1; -; Genomic_DNA.
DR EMBL; AY339485; AAP90117.1; -; Genomic_DNA.
DR EMBL; AY339486; AAP90130.1; -; Genomic_DNA.
DR EMBL; AY339487; AAP90143.1; -; Genomic_DNA.
DR EMBL; AY339488; AAP90156.1; -; Genomic_DNA.
DR EMBL; AY339489; AAP90169.1; -; Genomic_DNA.
DR EMBL; AY339490; AAP90182.1; -; Genomic_DNA.
DR EMBL; AY339491; AAP90195.1; -; Genomic_DNA.
DR EMBL; AY339492; AAP90208.1; -; Genomic_DNA.
DR EMBL; AY339493; AAP90221.1; -; Genomic_DNA.
DR EMBL; AY339494; AAP90234.1; -; Genomic_DNA.
DR EMBL; AY339495; AAP90247.1; -; Genomic_DNA.
DR EMBL; AY339496; AAP90260.1; -; Genomic_DNA.
DR EMBL; AY339497; AAP90273.1; -; Genomic_DNA.
DR EMBL; AY339498; AAP90286.1; -; Genomic_DNA.
DR EMBL; AY339499; AAP90299.1; -; Genomic_DNA.
DR EMBL; AY339500; AAP90312.1; -; Genomic_DNA.
DR EMBL; AY339501; AAP90325.1; -; Genomic_DNA.
DR EMBL; AY339502; AAP90338.1; -; Genomic_DNA.
DR EMBL; AY339503; AAP90351.1; -; Genomic_DNA.
DR EMBL; AY339504; AAP90364.1; -; Genomic_DNA.
DR EMBL; AY339505; AAP90377.1; -; Genomic_DNA.
DR EMBL; AY339506; AAP90390.1; -; Genomic_DNA.
DR EMBL; AY339507; AAP90403.1; -; Genomic_DNA.
DR EMBL; AY339508; AAP90416.1; -; Genomic_DNA.
DR EMBL; AY339509; AAP90429.1; -; Genomic_DNA.
DR EMBL; AY339510; AAP90442.1; -; Genomic_DNA.
DR EMBL; AY339511; AAP90455.1; -; Genomic_DNA.
DR EMBL; AY339512; AAP90468.1; -; Genomic_DNA.
DR EMBL; AY339513; AAP90481.1; -; Genomic_DNA.
DR EMBL; AY339514; AAP90494.1; -; Genomic_DNA.
DR EMBL; AY339515; AAP90507.1; -; Genomic_DNA.
DR EMBL; AY339516; AAP90520.1; -; Genomic_DNA.
DR EMBL; AY339517; AAP90533.1; -; Genomic_DNA.
DR EMBL; AY339518; AAP90546.1; -; Genomic_DNA.
DR EMBL; AY339519; AAP90559.1; -; Genomic_DNA.
DR EMBL; AY339520; AAP90572.1; -; Genomic_DNA.
DR EMBL; AY339521; AAP90585.1; -; Genomic_DNA.
DR EMBL; AY339522; AAP90598.1; -; Genomic_DNA.
DR EMBL; AY339523; AAP90611.1; -; Genomic_DNA.
DR EMBL; AY339524; AAP90624.1; -; Genomic_DNA.
DR EMBL; AY339525; AAP90637.1; -; Genomic_DNA.
DR EMBL; AY339526; AAP90650.1; -; Genomic_DNA.
DR EMBL; AY339527; AAP90663.1; -; Genomic_DNA.
DR EMBL; AY339528; AAP90676.1; -; Genomic_DNA.
DR EMBL; AY339529; AAP90689.1; -; Genomic_DNA.
DR EMBL; AY339530; AAP90702.1; -; Genomic_DNA.
DR EMBL; AY339531; AAP90715.1; -; Genomic_DNA.
DR EMBL; AY339532; AAP90728.1; -; Genomic_DNA.
DR EMBL; AY339533; AAP90741.1; -; Genomic_DNA.
DR EMBL; AY339534; AAP90754.1; -; Genomic_DNA.
DR EMBL; AY339535; AAP90767.1; -; Genomic_DNA.
DR EMBL; AY339536; AAP90780.1; -; Genomic_DNA.
DR EMBL; AY339537; AAP90793.1; -; Genomic_DNA.
DR EMBL; AY339538; AAP90806.1; -; Genomic_DNA.
DR EMBL; AY339539; AAP90819.1; -; Genomic_DNA.
DR EMBL; AY339540; AAP90832.1; -; Genomic_DNA.
DR EMBL; AY339541; AAP90845.1; -; Genomic_DNA.
DR EMBL; AY339542; AAP90858.1; -; Genomic_DNA.
DR EMBL; AY339543; AAP90871.1; -; Genomic_DNA.
DR EMBL; AY339544; AAP90884.1; -; Genomic_DNA.
DR EMBL; AY339545; AAP90897.1; -; Genomic_DNA.
DR EMBL; AY339546; AAP90910.1; -; Genomic_DNA.
DR EMBL; AY339547; AAP90923.1; -; Genomic_DNA.
DR EMBL; AY339548; AAP90936.1; -; Genomic_DNA.
DR EMBL; AY339549; AAP90949.1; -; Genomic_DNA.
DR EMBL; AY339550; AAP90962.1; -; Genomic_DNA.
DR EMBL; AY339551; AAP90975.1; -; Genomic_DNA.
DR EMBL; AY339552; AAP90988.1; -; Genomic_DNA.
DR EMBL; AY339553; AAP91001.1; -; Genomic_DNA.
DR EMBL; AY339554; AAP91014.1; -; Genomic_DNA.
DR EMBL; AY339555; AAP91027.1; -; Genomic_DNA.
DR EMBL; AY339556; AAP91040.1; -; Genomic_DNA.
DR EMBL; AY339557; AAP91053.1; -; Genomic_DNA.
DR EMBL; AY339558; AAP91066.1; -; Genomic_DNA.
DR EMBL; AY339559; AAP91079.1; -; Genomic_DNA.
DR EMBL; AY339560; AAP91092.1; -; Genomic_DNA.
DR EMBL; AY339563; AAP91131.1; -; Genomic_DNA.
DR EMBL; AY339564; AAP91144.1; -; Genomic_DNA.
DR EMBL; AY339566; AAP91170.1; -; Genomic_DNA.
DR EMBL; AY339567; AAP91183.1; -; Genomic_DNA.
DR EMBL; AY339568; AAP91196.1; -; Genomic_DNA.
DR EMBL; AY339569; AAP91209.1; -; Genomic_DNA.
DR EMBL; AY339570; AAP91222.1; -; Genomic_DNA.
DR EMBL; AY339571; AAP91235.1; -; Genomic_DNA.
DR EMBL; AY339572; AAP91248.1; -; Genomic_DNA.
DR EMBL; AY339573; AAP91261.1; -; Genomic_DNA.
DR EMBL; AY339574; AAP91274.1; -; Genomic_DNA.
DR EMBL; AY339575; AAP91287.1; -; Genomic_DNA.
DR EMBL; AY339576; AAP91300.1; -; Genomic_DNA.
DR EMBL; AY339577; AAP91313.1; -; Genomic_DNA.
DR EMBL; AY339578; AAP91326.1; -; Genomic_DNA.
DR EMBL; AY339579; AAP91339.1; -; Genomic_DNA.
DR EMBL; AY339580; AAP91352.1; -; Genomic_DNA.
DR EMBL; AY339581; AAP91365.1; -; Genomic_DNA.
DR EMBL; AY339582; AAP91378.1; -; Genomic_DNA.
DR EMBL; AY339583; AAP91391.1; -; Genomic_DNA.
DR EMBL; AY339584; AAP91404.1; -; Genomic_DNA.
DR EMBL; AY339585; AAP91417.1; -; Genomic_DNA.
DR EMBL; AY339586; AAP91430.1; -; Genomic_DNA.
DR EMBL; AY339587; AAP91443.1; -; Genomic_DNA.
DR EMBL; AY339588; AAP91456.1; -; Genomic_DNA.
DR EMBL; AY339589; AAP91469.1; -; Genomic_DNA.
DR EMBL; AY339590; AAP91482.1; -; Genomic_DNA.
DR EMBL; AY339591; AAP91495.1; -; Genomic_DNA.
DR EMBL; AY339592; AAP91508.1; -; Genomic_DNA.
DR EMBL; AY339593; AAP91521.1; -; Genomic_DNA.
DR EMBL; AF346963; AAK17209.1; -; Genomic_DNA.
DR EMBL; AF346964; AAK17222.1; -; Genomic_DNA.
DR EMBL; AF346965; AAK17235.1; -; Genomic_DNA.
DR EMBL; AF346966; AAK17248.1; -; Genomic_DNA.
DR EMBL; AF346967; AAK17261.1; -; Genomic_DNA.
DR EMBL; AF346970; AAK17300.1; -; Genomic_DNA.
DR EMBL; AF346971; AAK17313.1; -; Genomic_DNA.
DR EMBL; AF346972; AAK17326.1; -; Genomic_DNA.
DR EMBL; AF346973; AAK17339.1; -; Genomic_DNA.
DR EMBL; AF346974; AAK17352.1; -; Genomic_DNA.
DR EMBL; AF346975; AAK17365.1; -; Genomic_DNA.
DR EMBL; AF346976; AAK17378.1; -; Genomic_DNA.
DR EMBL; AF346977; AAK17391.1; -; Genomic_DNA.
DR EMBL; AF346978; AAK17404.1; -; Genomic_DNA.
DR EMBL; AF346979; AAK17417.1; -; Genomic_DNA.
DR EMBL; AF346980; AAK17430.1; -; Genomic_DNA.
DR EMBL; AF346981; AAK17443.1; -; Genomic_DNA.
DR EMBL; AF346982; AAK17456.1; -; Genomic_DNA.
DR EMBL; AF346983; AAK17469.1; -; Genomic_DNA.
DR EMBL; AF346984; AAK17482.1; -; Genomic_DNA.
DR EMBL; AF346988; AAK17534.1; -; Genomic_DNA.
DR EMBL; AF346989; AAK17547.1; -; Genomic_DNA.
DR EMBL; AF346990; AAK17560.1; -; Genomic_DNA.
DR EMBL; AF346991; AAK17573.1; -; Genomic_DNA.
DR EMBL; AF346993; AAK17599.1; -; Genomic_DNA.
DR EMBL; AF346994; AAK17612.1; -; Genomic_DNA.
DR EMBL; AF346995; AAK17625.1; -; Genomic_DNA.
DR EMBL; AF346998; AAK17664.1; -; Genomic_DNA.
DR EMBL; AF347000; AAK17690.1; -; Genomic_DNA.
DR EMBL; AF347001; AAK17703.1; -; Genomic_DNA.
DR EMBL; AF347003; AAK17729.1; -; Genomic_DNA.
DR EMBL; AF347004; AAK17742.1; -; Genomic_DNA.
DR EMBL; AF347007; AAK17781.1; -; Genomic_DNA.
DR EMBL; AF347010; AAK17820.1; -; Genomic_DNA.
DR EMBL; AF347011; AAK17833.1; -; Genomic_DNA.
DR EMBL; AF347012; AAK17846.1; -; Genomic_DNA.
DR EMBL; AF347013; AAK17859.1; -; Genomic_DNA.
DR EMBL; AF347014; AAK17872.1; -; Genomic_DNA.
DR EMBL; AF347015; AAK17885.1; -; Genomic_DNA.
DR EMBL; AY289051; AAP47882.1; -; Genomic_DNA.
DR EMBL; AY289052; AAP47895.1; -; Genomic_DNA.
DR EMBL; AY289053; AAP47908.1; -; Genomic_DNA.
DR EMBL; AY289055; AAP47934.1; -; Genomic_DNA.
DR EMBL; AY289056; AAP47947.1; -; Genomic_DNA.
DR EMBL; AY289057; AAP47960.1; -; Genomic_DNA.
DR EMBL; AY289058; AAP47973.1; -; Genomic_DNA.
DR EMBL; AY289059; AAP47986.1; -; Genomic_DNA.
DR EMBL; AY289060; AAP47999.1; -; Genomic_DNA.
DR EMBL; AY289061; AAP48012.1; -; Genomic_DNA.
DR EMBL; AY289062; AAP48025.1; -; Genomic_DNA.
DR EMBL; AY289064; AAP48051.1; -; Genomic_DNA.
DR EMBL; AY289065; AAP48064.1; -; Genomic_DNA.
DR EMBL; AY289066; AAP48077.1; -; Genomic_DNA.
DR EMBL; AY289067; AAP48090.1; -; Genomic_DNA.
DR EMBL; AY289068; AAP48103.1; -; Genomic_DNA.
DR EMBL; AY289069; AAP48116.1; -; Genomic_DNA.
DR EMBL; AY289070; AAP48129.1; -; Genomic_DNA.
DR EMBL; AY289071; AAP48142.1; -; Genomic_DNA.
DR EMBL; AY289073; AAP48168.1; -; Genomic_DNA.
DR EMBL; AY289074; AAP48181.1; -; Genomic_DNA.
DR EMBL; AY289075; AAP48194.1; -; Genomic_DNA.
DR EMBL; AY289076; AAP48207.1; -; Genomic_DNA.
DR EMBL; AY289077; AAP48220.1; -; Genomic_DNA.
DR EMBL; AY289078; AAP48233.1; -; Genomic_DNA.
DR EMBL; AY289079; AAP48246.1; -; Genomic_DNA.
DR EMBL; AY289080; AAP48259.1; -; Genomic_DNA.
DR EMBL; AY289081; AAP48272.1; -; Genomic_DNA.
DR EMBL; AY289082; AAP48285.1; -; Genomic_DNA.
DR EMBL; AY289083; AAP48298.1; -; Genomic_DNA.
DR EMBL; AY289084; AAP48311.1; -; Genomic_DNA.
DR EMBL; AY289085; AAP48324.1; -; Genomic_DNA.
DR EMBL; AY289086; AAP48337.1; -; Genomic_DNA.
DR EMBL; AY289088; AAP48363.1; -; Genomic_DNA.
DR EMBL; AY289089; AAP48376.1; -; Genomic_DNA.
DR EMBL; AY289090; AAP48389.1; -; Genomic_DNA.
DR EMBL; AY289092; AAP48415.1; -; Genomic_DNA.
DR EMBL; AY289093; AAP48427.1; -; Genomic_DNA.
DR EMBL; AY289094; AAP48440.1; -; Genomic_DNA.
DR EMBL; AY289095; AAP48453.1; -; Genomic_DNA.
DR EMBL; AY289096; AAP48466.1; -; Genomic_DNA.
DR EMBL; AY289097; AAP48479.1; -; Genomic_DNA.
DR EMBL; AY289098; AAP48492.1; -; Genomic_DNA.
DR EMBL; AY289099; AAP48505.1; -; Genomic_DNA.
DR EMBL; AY289100; AAP48518.1; -; Genomic_DNA.
DR EMBL; AY289101; AAP48531.1; -; Genomic_DNA.
DR EMBL; AY289102; AAP48544.1; -; Genomic_DNA.
DR EMBL; AY495090; AAR92498.1; -; Genomic_DNA.
DR EMBL; AY495091; AAR92511.1; -; Genomic_DNA.
DR EMBL; AY495092; AAR92524.1; -; Genomic_DNA.
DR EMBL; AY495093; AAR92537.1; -; Genomic_DNA.
DR EMBL; AY495094; AAR92550.1; -; Genomic_DNA.
DR EMBL; AY495095; AAR92563.1; -; Genomic_DNA.
DR EMBL; AY495096; AAR92576.1; -; Genomic_DNA.
DR EMBL; AY495097; AAR92589.1; -; Genomic_DNA.
DR EMBL; AY495098; AAR92602.1; -; Genomic_DNA.
DR EMBL; AY495099; AAR92615.1; -; Genomic_DNA.
DR EMBL; AY495100; AAR92628.1; -; Genomic_DNA.
DR EMBL; AY495101; AAR92641.1; -; Genomic_DNA.
DR EMBL; AY495102; AAR92654.1; -; Genomic_DNA.
DR EMBL; AY495103; AAR92667.1; -; Genomic_DNA.
DR EMBL; AY495104; AAR92680.1; -; Genomic_DNA.
DR EMBL; AY495105; AAR92693.1; -; Genomic_DNA.
DR EMBL; AY495106; AAR92706.1; -; Genomic_DNA.
DR EMBL; AY495107; AAR92719.1; -; Genomic_DNA.
DR EMBL; AY495108; AAR92732.1; -; Genomic_DNA.
DR EMBL; AY495109; AAR92745.1; -; Genomic_DNA.
DR EMBL; AY495110; AAR92758.1; -; Genomic_DNA.
DR EMBL; AY495111; AAR92771.1; -; Genomic_DNA.
DR EMBL; AY495112; AAR92784.1; -; Genomic_DNA.
DR EMBL; AY495113; AAR92797.1; -; Genomic_DNA.
DR EMBL; AY495114; AAR92810.1; -; Genomic_DNA.
DR EMBL; AY495116; AAR92836.1; -; Genomic_DNA.
DR EMBL; AY495117; AAR92849.1; -; Genomic_DNA.
DR EMBL; AY495118; AAR92862.1; -; Genomic_DNA.
DR EMBL; AY495119; AAR92875.1; -; Genomic_DNA.
DR EMBL; AY495120; AAR92888.1; -; Genomic_DNA.
DR EMBL; AY495121; AAR92901.1; -; Genomic_DNA.
DR EMBL; AY495122; AAR92914.1; -; Genomic_DNA.
DR EMBL; AY495123; AAR92927.1; -; Genomic_DNA.
DR EMBL; AY495124; AAR92940.1; -; Genomic_DNA.
DR EMBL; AY495125; AAR92953.1; -; Genomic_DNA.
DR EMBL; AY495126; AAR92966.1; -; Genomic_DNA.
DR EMBL; AY495127; AAR92979.1; -; Genomic_DNA.
DR EMBL; AY495128; AAR92992.1; -; Genomic_DNA.
DR EMBL; AY495129; AAR93005.1; -; Genomic_DNA.
DR EMBL; AY495130; AAR93018.1; -; Genomic_DNA.
DR EMBL; AY495131; AAR93031.1; -; Genomic_DNA.
DR EMBL; AY495132; AAR93044.1; -; Genomic_DNA.
DR EMBL; AY495133; AAR93057.1; -; Genomic_DNA.
DR EMBL; AY495134; AAR93070.1; -; Genomic_DNA.
DR EMBL; AY495135; AAR93083.1; -; Genomic_DNA.
DR EMBL; AY495136; AAR93096.1; -; Genomic_DNA.
DR EMBL; AY495137; AAR93109.1; -; Genomic_DNA.
DR EMBL; AY495138; AAR93122.1; -; Genomic_DNA.
DR EMBL; AY495139; AAR93135.1; -; Genomic_DNA.
DR EMBL; AY495140; AAR93148.1; -; Genomic_DNA.
DR EMBL; AY495141; AAR93161.1; -; Genomic_DNA.
DR EMBL; AY495142; AAR93174.1; -; Genomic_DNA.
DR EMBL; AY495143; AAR93187.1; -; Genomic_DNA.
DR EMBL; AY495144; AAR93200.1; -; Genomic_DNA.
DR EMBL; AY495145; AAR93213.1; -; Genomic_DNA.
DR EMBL; AY495147; AAR93239.1; -; Genomic_DNA.
DR EMBL; AY495148; AAR93252.1; -; Genomic_DNA.
DR EMBL; AY495149; AAR93265.1; -; Genomic_DNA.
DR EMBL; AY495150; AAR93278.1; -; Genomic_DNA.
DR EMBL; AY495151; AAR93291.1; -; Genomic_DNA.
DR EMBL; AY495152; AAR93304.1; -; Genomic_DNA.
DR EMBL; AY495153; AAR93317.1; -; Genomic_DNA.
DR EMBL; AY495154; AAR93330.1; -; Genomic_DNA.
DR EMBL; AY495155; AAR93343.1; -; Genomic_DNA.
DR EMBL; AY495156; AAR93356.1; -; Genomic_DNA.
DR EMBL; AY495157; AAR93369.1; -; Genomic_DNA.
DR EMBL; AY495158; AAR93382.1; -; Genomic_DNA.
DR EMBL; AY495159; AAR93395.1; -; Genomic_DNA.
DR EMBL; AY495160; AAR93408.1; -; Genomic_DNA.
DR EMBL; AY495161; AAR93421.1; -; Genomic_DNA.
DR EMBL; AY495162; AAR93434.1; -; Genomic_DNA.
DR EMBL; AY495163; AAR93447.1; -; Genomic_DNA.
DR EMBL; AY495164; AAR93460.1; -; Genomic_DNA.
DR EMBL; AY495165; AAR93473.1; -; Genomic_DNA.
DR EMBL; AY495166; AAR93486.1; -; Genomic_DNA.
DR EMBL; AY495167; AAR93499.1; -; Genomic_DNA.
DR EMBL; AY495168; AAR93512.1; -; Genomic_DNA.
DR EMBL; AY495169; AAR93525.1; -; Genomic_DNA.
DR EMBL; AY495170; AAR93538.1; -; Genomic_DNA.
DR EMBL; AY495171; AAR93551.1; -; Genomic_DNA.
DR EMBL; AY495172; AAR93564.1; -; Genomic_DNA.
DR EMBL; AY495173; AAR93577.1; -; Genomic_DNA.
DR EMBL; AY495174; AAR93590.1; -; Genomic_DNA.
DR EMBL; AY495175; AAR93603.1; -; Genomic_DNA.
DR EMBL; AY495176; AAR93616.1; -; Genomic_DNA.
DR EMBL; AY495177; AAR93629.1; -; Genomic_DNA.
DR EMBL; AY495178; AAR93642.1; -; Genomic_DNA.
DR EMBL; AY495179; AAR93655.1; -; Genomic_DNA.
DR EMBL; AY495180; AAR93668.1; -; Genomic_DNA.
DR EMBL; AY495181; AAR93681.1; -; Genomic_DNA.
DR EMBL; AY495182; AAR93694.1; -; Genomic_DNA.
DR EMBL; AY495183; AAR93707.1; -; Genomic_DNA.
DR EMBL; AY495184; AAR93720.1; -; Genomic_DNA.
DR EMBL; AY495185; AAR93733.1; -; Genomic_DNA.
DR EMBL; AY495186; AAR93746.1; -; Genomic_DNA.
DR EMBL; AY495187; AAR93759.1; -; Genomic_DNA.
DR EMBL; AY495188; AAR93772.1; -; Genomic_DNA.
DR EMBL; AY495189; AAR93785.1; -; Genomic_DNA.
DR EMBL; AY495190; AAR93798.1; -; Genomic_DNA.
DR EMBL; AY495191; AAR93811.1; -; Genomic_DNA.
DR EMBL; AY495192; AAR93824.1; -; Genomic_DNA.
DR EMBL; AY495193; AAR93837.1; -; Genomic_DNA.
DR EMBL; AY495194; AAR93850.1; -; Genomic_DNA.
DR EMBL; AY495195; AAR93863.1; -; Genomic_DNA.
DR EMBL; AY495196; AAR93876.1; -; Genomic_DNA.
DR EMBL; AY495197; AAR93889.1; -; Genomic_DNA.
DR EMBL; AY495198; AAR93902.1; -; Genomic_DNA.
DR EMBL; AY495199; AAR93915.1; -; Genomic_DNA.
DR EMBL; AY495200; AAR93928.1; -; Genomic_DNA.
DR EMBL; AY495201; AAR93941.1; -; Genomic_DNA.
DR EMBL; AY495202; AAR93954.1; -; Genomic_DNA.
DR EMBL; AY495203; AAR93967.1; -; Genomic_DNA.
DR EMBL; AY495204; AAR93980.1; -; Genomic_DNA.
DR EMBL; AY495205; AAR93993.1; -; Genomic_DNA.
DR EMBL; AY495206; AAR94006.1; -; Genomic_DNA.
DR EMBL; AY495207; AAR94019.1; -; Genomic_DNA.
DR EMBL; AY495208; AAR94032.1; -; Genomic_DNA.
DR EMBL; AY495209; AAR94045.1; -; Genomic_DNA.
DR EMBL; AY495210; AAR94058.1; -; Genomic_DNA.
DR EMBL; AY495211; AAR94071.1; -; Genomic_DNA.
DR EMBL; AY495212; AAR94084.1; -; Genomic_DNA.
DR EMBL; AY495213; AAR94097.1; -; Genomic_DNA.
DR EMBL; AY495214; AAR94110.1; -; Genomic_DNA.
DR EMBL; AY495215; AAR94123.1; -; Genomic_DNA.
DR EMBL; AY495216; AAR94136.1; -; Genomic_DNA.
DR EMBL; AY495217; AAR94149.1; -; Genomic_DNA.
DR EMBL; AY495218; AAR94162.1; -; Genomic_DNA.
DR EMBL; AY495219; AAR94175.1; -; Genomic_DNA.
DR EMBL; AY495220; AAR94188.1; -; Genomic_DNA.
DR EMBL; AY495221; AAR94201.1; -; Genomic_DNA.
DR EMBL; AY495222; AAR94214.1; -; Genomic_DNA.
DR EMBL; AY495223; AAR94227.1; -; Genomic_DNA.
DR EMBL; AY495224; AAR94240.1; -; Genomic_DNA.
DR EMBL; AY495225; AAR94253.1; -; Genomic_DNA.
DR EMBL; AY495226; AAR94266.1; -; Genomic_DNA.
DR EMBL; AY495228; AAR94292.1; -; Genomic_DNA.
DR EMBL; AY495230; AAR94318.1; -; Genomic_DNA.
DR EMBL; AY495231; AAR94331.1; -; Genomic_DNA.
DR EMBL; AY495232; AAR94344.1; -; Genomic_DNA.
DR EMBL; AY495233; AAR94357.1; -; Genomic_DNA.
DR EMBL; AY495234; AAR94370.1; -; Genomic_DNA.
DR EMBL; AY495235; AAR94383.1; -; Genomic_DNA.
DR EMBL; AY495236; AAR94396.1; -; Genomic_DNA.
DR EMBL; AY495237; AAR94409.1; -; Genomic_DNA.
DR EMBL; AY495239; AAR94435.1; -; Genomic_DNA.
DR EMBL; AY495240; AAR94448.1; -; Genomic_DNA.
DR EMBL; AY495241; AAR94461.1; -; Genomic_DNA.
DR EMBL; AY495242; AAR94474.1; -; Genomic_DNA.
DR EMBL; AY495243; AAR94487.1; -; Genomic_DNA.
DR EMBL; AY495244; AAR94500.1; -; Genomic_DNA.
DR EMBL; AY495245; AAR94513.1; -; Genomic_DNA.
DR EMBL; AY495246; AAR94526.1; -; Genomic_DNA.
DR EMBL; AY495247; AAR94539.1; -; Genomic_DNA.
DR EMBL; AY495248; AAR94552.1; -; Genomic_DNA.
DR EMBL; AY495249; AAR94565.1; -; Genomic_DNA.
DR EMBL; AY495250; AAR94578.1; -; Genomic_DNA.
DR EMBL; AY495251; AAR94591.1; -; Genomic_DNA.
DR EMBL; AY495252; AAR94604.1; -; Genomic_DNA.
DR EMBL; AY495253; AAR94617.1; -; Genomic_DNA.
DR EMBL; AY495254; AAR94630.1; -; Genomic_DNA.
DR EMBL; AY495255; AAR94643.1; -; Genomic_DNA.
DR EMBL; AY495256; AAR94656.1; -; Genomic_DNA.
DR EMBL; AY495258; AAR94682.1; -; Genomic_DNA.
DR EMBL; AY495259; AAR94695.1; -; Genomic_DNA.
DR EMBL; AY495261; AAR94721.1; -; Genomic_DNA.
DR EMBL; AY495262; AAR94734.1; -; Genomic_DNA.
DR EMBL; AY495263; AAR94747.1; -; Genomic_DNA.
DR EMBL; AY495264; AAR94760.1; -; Genomic_DNA.
DR EMBL; AY495265; AAR94773.1; -; Genomic_DNA.
DR EMBL; AY495266; AAR94786.1; -; Genomic_DNA.
DR EMBL; AY495267; AAR94799.1; -; Genomic_DNA.
DR EMBL; AY495268; AAR94812.1; -; Genomic_DNA.
DR EMBL; AY495269; AAR94825.1; -; Genomic_DNA.
DR EMBL; AY495270; AAR94838.1; -; Genomic_DNA.
DR EMBL; AY495271; AAR94851.1; -; Genomic_DNA.
DR EMBL; AY495272; AAR94864.1; -; Genomic_DNA.
DR EMBL; AY495273; AAR94877.1; -; Genomic_DNA.
DR EMBL; AY495274; AAR94890.1; -; Genomic_DNA.
DR EMBL; AY495275; AAR94903.1; -; Genomic_DNA.
DR EMBL; AY495276; AAR94916.1; -; Genomic_DNA.
DR EMBL; AY495277; AAR94929.1; -; Genomic_DNA.
DR EMBL; AY495278; AAR94942.1; -; Genomic_DNA.
DR EMBL; AY495279; AAR94955.1; -; Genomic_DNA.
DR EMBL; AY495280; AAR94968.1; -; Genomic_DNA.
DR EMBL; AY495281; AAR94981.1; -; Genomic_DNA.
DR EMBL; AY495282; AAR94994.1; -; Genomic_DNA.
DR EMBL; AY495283; AAR95007.1; -; Genomic_DNA.
DR EMBL; AY495284; AAR95020.1; -; Genomic_DNA.
DR EMBL; AY495285; AAR95033.1; -; Genomic_DNA.
DR EMBL; AY495286; AAR95046.1; -; Genomic_DNA.
DR EMBL; AY495287; AAR95059.1; -; Genomic_DNA.
DR EMBL; AY495288; AAR95072.1; -; Genomic_DNA.
DR EMBL; AY495289; AAR95085.1; -; Genomic_DNA.
DR EMBL; AY495290; AAR95098.1; -; Genomic_DNA.
DR EMBL; AY495291; AAR95111.1; -; Genomic_DNA.
DR EMBL; AY495292; AAR95124.1; -; Genomic_DNA.
DR EMBL; AY495293; AAR95137.1; -; Genomic_DNA.
DR EMBL; AY495294; AAR95150.1; -; Genomic_DNA.
DR EMBL; AY495295; AAR95163.1; -; Genomic_DNA.
DR EMBL; AY495297; AAR95189.1; -; Genomic_DNA.
DR EMBL; AY495298; AAR95202.1; -; Genomic_DNA.
DR EMBL; AY495299; AAR95215.1; -; Genomic_DNA.
DR EMBL; AY495300; AAR95228.1; -; Genomic_DNA.
DR EMBL; AY495301; AAR95241.1; -; Genomic_DNA.
DR EMBL; AY495302; AAR95254.1; -; Genomic_DNA.
DR EMBL; AY495303; AAR95267.1; -; Genomic_DNA.
DR EMBL; AY495304; AAR95280.1; -; Genomic_DNA.
DR EMBL; AY495305; AAR95293.1; -; Genomic_DNA.
DR EMBL; AY495306; AAR95306.1; -; Genomic_DNA.
DR EMBL; AY495307; AAR95319.1; -; Genomic_DNA.
DR EMBL; AY495308; AAR95332.1; -; Genomic_DNA.
DR EMBL; AY495309; AAR95345.1; -; Genomic_DNA.
DR EMBL; AY495310; AAR95358.1; -; Genomic_DNA.
DR EMBL; AY495311; AAR95371.1; -; Genomic_DNA.
DR EMBL; AY495312; AAR95384.1; -; Genomic_DNA.
DR EMBL; AY495313; AAR95397.1; -; Genomic_DNA.
DR EMBL; AY495314; AAR95410.1; -; Genomic_DNA.
DR EMBL; AY495315; AAR95423.1; -; Genomic_DNA.
DR EMBL; AY495316; AAR95436.1; -; Genomic_DNA.
DR EMBL; AY495317; AAR95449.1; -; Genomic_DNA.
DR EMBL; AY495318; AAR95462.1; -; Genomic_DNA.
DR EMBL; AY495319; AAR95475.1; -; Genomic_DNA.
DR EMBL; AY495320; AAR95488.1; -; Genomic_DNA.
DR EMBL; AY495322; AAR95514.1; -; Genomic_DNA.
DR EMBL; AY495323; AAR95527.1; -; Genomic_DNA.
DR EMBL; AY495324; AAR95540.1; -; Genomic_DNA.
DR EMBL; AY495325; AAR95553.1; -; Genomic_DNA.
DR EMBL; AY495326; AAR95566.1; -; Genomic_DNA.
DR EMBL; AY495327; AAR95579.1; -; Genomic_DNA.
DR EMBL; AY495328; AAR95592.1; -; Genomic_DNA.
DR EMBL; AY495329; AAR95605.1; -; Genomic_DNA.
DR EMBL; AY495330; AAR95618.1; -; Genomic_DNA.
DR EMBL; M10546; AAA65503.1; -; Genomic_DNA.
DR PIR; A00463; ODHU1.
DR RefSeq; YP_003024028.1; NC_012920.1.
DR PDB; 5Z62; EM; 3.60 A; A=1-513.
DR PDBsum; 5Z62; -.
DR AlphaFoldDB; P00395; -.
DR SMR; P00395; -.
DR BioGRID; 110615; 63.
DR ComplexPortal; CPX-6123; Mitochondrial respiratory chain complex IV.
DR CORUM; P00395; -.
DR IntAct; P00395; 42.
DR MINT; P00395; -.
DR STRING; 9606.ENSP00000354499; -.
DR BindingDB; P00395; -.
DR ChEMBL; CHEMBL6173; -.
DR DrugBank; DB02659; Cholic Acid.
DR DrugBank; DB09130; Copper.
DR DrugBank; DB06778; Cupric sulfate.
DR DrugBank; DB04464; N-Formylmethionine.
DR DrugBank; DB09140; Oxygen.
DR TCDB; 3.D.4.11.1; the proton-translocating cytochrome oxidase (cox) superfamily.
DR GlyGen; P00395; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; P00395; -.
DR PhosphoSitePlus; P00395; -.
DR BioMuta; MT-CO1; -.
DR DMDM; 116977; -.
DR EPD; P00395; -.
DR jPOST; P00395; -.
DR MassIVE; P00395; -.
DR PaxDb; P00395; -.
DR PeptideAtlas; P00395; -.
DR PRIDE; P00395; -.
DR ProteomicsDB; 51246; -.
DR TopDownProteomics; P00395; -.
DR Antibodypedia; 4261; 220 antibodies from 32 providers.
DR DNASU; 4512; -.
DR Ensembl; ENST00000361624.2; ENSP00000354499.2; ENSG00000198804.2.
DR GeneID; 4512; -.
DR KEGG; hsa:4512; -.
DR CTD; 4512; -.
DR DisGeNET; 4512; -.
DR GeneCards; MT-CO1; -.
DR GeneReviews; MT-CO1; -.
DR HGNC; HGNC:7419; MT-CO1.
DR HPA; ENSG00000198804; Tissue enhanced (brain, heart muscle, tongue).
DR MalaCards; MT-CO1; -.
DR MIM; 114500; phenotype.
DR MIM; 220110; phenotype.
DR MIM; 500008; phenotype.
DR MIM; 516030; gene.
DR MIM; 535000; phenotype.
DR MIM; 550500; phenotype.
DR neXtProt; NX_P00395; -.
DR OpenTargets; ENSG00000198804; -.
DR Orphanet; 99845; Genetic recurrent myoglobinuria.
DR Orphanet; 254905; Isolated cytochrome C oxidase deficiency.
DR Orphanet; 104; Leber hereditary optic neuropathy.
DR Orphanet; 550; MELAS.
DR Orphanet; 90641; Mitochondrial non-syndromic sensorineural deafness.
DR PharmGKB; PA31225; -.
DR VEuPathDB; HostDB:ENSG00000198804; -.
DR eggNOG; KOG4769; Eukaryota.
DR GeneTree; ENSGT00390000001518; -.
DR HOGENOM; CLU_011899_7_3_1; -.
DR InParanoid; P00395; -.
DR OMA; WAMMSIG; -.
DR OrthoDB; 728231at2759; -.
DR PhylomeDB; P00395; -.
DR TreeFam; TF353096; -.
DR BioCyc; MetaCyc:HS00026-MON; -.
DR BRENDA; 7.1.1.9; 2681.
DR PathwayCommons; P00395; -.
DR Reactome; R-HSA-5628897; TP53 Regulates Metabolic Genes.
DR Reactome; R-HSA-611105; Respiratory electron transport.
DR Reactome; R-HSA-9707564; Cytoprotection by HMOX1.
DR SignaLink; P00395; -.
DR SIGNOR; P00395; -.
DR UniPathway; UPA00705; -.
DR BioGRID-ORCS; 4512; 0 hits in 2 CRISPR screens.
DR ChiTaRS; MT-CO1; human.
DR GeneWiki; MT-CO1; -.
DR GenomeRNAi; 4512; -.
DR Pharos; P00395; Tchem.
DR PRO; PR:P00395; -.
DR Proteomes; UP000005640; Mitochondrion.
DR RNAct; P00395; protein.
DR Bgee; ENSG00000198804; Expressed in right uterine tube and 93 other tissues.
DR ExpressionAtlas; P00395; baseline and differential.
DR Genevisible; P00395; HS.
DR GO; GO:0005743; C:mitochondrial inner membrane; TAS:Reactome.
DR GO; GO:0031966; C:mitochondrial membrane; IDA:ComplexPortal.
DR GO; GO:0005750; C:mitochondrial respiratory chain complex III; IDA:UniProtKB.
DR GO; GO:0005751; C:mitochondrial respiratory chain complex IV; IDA:UniProtKB.
DR GO; GO:0045277; C:respiratory chain complex IV; IDA:UniProtKB.
DR GO; GO:0004129; F:cytochrome-c oxidase activity; IEA:UniProtKB-EC.
DR GO; GO:0020037; F:heme binding; IEA:InterPro.
DR GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW.
DR GO; GO:0009060; P:aerobic respiration; IBA:GO_Central.
DR GO; GO:0007568; P:aging; IEA:Ensembl.
DR GO; GO:0045333; P:cellular respiration; IC:ComplexPortal.
DR GO; GO:0021549; P:cerebellum development; IEA:Ensembl.
DR GO; GO:0015990; P:electron transport coupled proton transport; IBA:GO_Central.
DR GO; GO:0006123; P:mitochondrial electron transport, cytochrome c to oxygen; IBA:GO_Central.
DR GO; GO:0022904; P:respiratory electron transport chain; IBA:GO_Central.
DR GO; GO:0046688; P:response to copper ion; IEA:Ensembl.
DR GO; GO:0051602; P:response to electrical stimulus; IEA:Ensembl.
DR GO; GO:0006979; P:response to oxidative stress; IEA:Ensembl.
DR CDD; cd01663; Cyt_c_Oxidase_I; 1.
DR Gene3D; 1.20.210.10; -; 1.
DR InterPro; IPR023616; Cyt_c_oxase-like_su1_dom.
DR InterPro; IPR036927; Cyt_c_oxase-like_su1_sf.
DR InterPro; IPR000883; Cyt_C_Oxase_1.
DR InterPro; IPR023615; Cyt_c_Oxase_su1_BS.
DR InterPro; IPR033944; Cyt_c_oxase_su1_dom.
DR PANTHER; PTHR10422; PTHR10422; 1.
DR Pfam; PF00115; COX1; 1.
DR PRINTS; PR01165; CYCOXIDASEI.
DR SUPFAM; SSF81442; SSF81442; 1.
DR PROSITE; PS50855; COX1; 1.
DR PROSITE; PS00077; COX1_CUB; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Calcium; Copper; Deafness; Disease variant;
KW Electron transport; Heme; Iron; Leber hereditary optic neuropathy;
KW Magnesium; Membrane; Metal-binding; Mitochondrion;
KW Mitochondrion inner membrane; Non-syndromic deafness;
KW Primary mitochondrial disease; Reference proteome; Respiratory chain;
KW Sodium; Translocase; Transmembrane; Transmembrane helix; Transport.
FT CHAIN 1..513
FT /note="Cytochrome c oxidase subunit 1"
FT /id="PRO_0000183345"
FT TOPO_DOM 1..11
FT /note="Mitochondrial matrix"
FT /evidence="ECO:0000269|PubMed:30030519"
FT TRANSMEM 12..40
FT /note="Helical; Name=I"
FT /evidence="ECO:0000250|UniProtKB:P00396"
FT TOPO_DOM 41..50
FT /note="Mitochondrial intermembrane"
FT /evidence="ECO:0000269|PubMed:30030519"
FT TRANSMEM 51..86
FT /note="Helical; Name=II"
FT /evidence="ECO:0000250|UniProtKB:P00396"
FT TOPO_DOM 87..94
FT /note="Mitochondrial matrix"
FT /evidence="ECO:0000269|PubMed:30030519"
FT TRANSMEM 95..117
FT /note="Helical; Name=III"
FT /evidence="ECO:0000250|UniProtKB:P00396"
FT TOPO_DOM 118..140
FT /note="Mitochondrial intermembrane"
FT /evidence="ECO:0000269|PubMed:30030519"
FT TRANSMEM 141..170
FT /note="Helical; Name=IV"
FT /evidence="ECO:0000250|UniProtKB:P00396"
FT TOPO_DOM 171..182
FT /note="Mitochondrial matrix"
FT /evidence="ECO:0000269|PubMed:30030519"
FT TRANSMEM 183..212
FT /note="Helical; Name=V"
FT /evidence="ECO:0000250|UniProtKB:P00396"
FT TOPO_DOM 213..227
FT /note="Mitochondrial intermembrane"
FT /evidence="ECO:0000269|PubMed:30030519"
FT TRANSMEM 228..261
FT /note="Helical; Name=VI"
FT /evidence="ECO:0000250|UniProtKB:P00396"
FT TOPO_DOM 262..269
FT /note="Mitochondrial matrix"
FT /evidence="ECO:0000269|PubMed:30030519"
FT TRANSMEM 270..286
FT /note="Helical; Name=VII"
FT /evidence="ECO:0000250|UniProtKB:P00396"
FT TOPO_DOM 287..298
FT /note="Mitochondrial intermembrane"
FT /evidence="ECO:0000269|PubMed:30030519"
FT TRANSMEM 299..327
FT /note="Helical; Name=VIII"
FT /evidence="ECO:0000250|UniProtKB:P00396"
FT TOPO_DOM 328..335
FT /note="Mitochondrial matrix"
FT /evidence="ECO:0000269|PubMed:30030519"
FT TRANSMEM 336..357
FT /note="Helical; Name=IX"
FT /evidence="ECO:0000250|UniProtKB:P00396"
FT TOPO_DOM 358..370
FT /note="Mitochondrial intermembrane"
FT /evidence="ECO:0000269|PubMed:30030519"
FT TRANSMEM 371..400
FT /note="Helical; Name=X"
FT /evidence="ECO:0000250|UniProtKB:P00396"
FT TOPO_DOM 401..406
FT /note="Mitochondrial matrix"
FT /evidence="ECO:0000269|PubMed:30030519"
FT TRANSMEM 407..433
FT /note="Helical; Name=XI"
FT /evidence="ECO:0000250|UniProtKB:P00396"
FT TOPO_DOM 434..446
FT /note="Mitochondrial intermembrane"
FT /evidence="ECO:0000269|PubMed:30030519"
FT TRANSMEM 447..478
FT /note="Helical; Name=XII"
FT /evidence="ECO:0000250|UniProtKB:P00396"
FT TOPO_DOM 479..513
FT /note="Mitochondrial matrix"
FT /evidence="ECO:0000269|PubMed:30030519"
FT BINDING 40
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /evidence="ECO:0000250|UniProtKB:P00401"
FT BINDING 45
FT /ligand="Ca(2+)"
FT /ligand_id="ChEBI:CHEBI:29108"
FT /evidence="ECO:0000250|UniProtKB:P00401"
FT BINDING 61
FT /ligand="Fe(II)-heme a"
FT /ligand_id="ChEBI:CHEBI:61715"
FT /ligand_note="low-spin"
FT /ligand_part="Fe"
FT /ligand_part_id="ChEBI:CHEBI:18248"
FT /note="axial binding residue"
FT /evidence="ECO:0000269|PubMed:30030519"
FT BINDING 240
FT /ligand="Cu cation"
FT /ligand_id="ChEBI:CHEBI:23378"
FT /ligand_label="B"
FT /evidence="ECO:0000269|PubMed:30030519"
FT BINDING 244
FT /ligand="O2"
FT /ligand_id="ChEBI:CHEBI:15379"
FT /evidence="ECO:0000250|UniProtKB:P00396"
FT BINDING 290
FT /ligand="Cu cation"
FT /ligand_id="ChEBI:CHEBI:23378"
FT /ligand_label="B"
FT /evidence="ECO:0000269|PubMed:30030519"
FT BINDING 291
FT /ligand="Cu cation"
FT /ligand_id="ChEBI:CHEBI:23378"
FT /ligand_label="B"
FT /evidence="ECO:0000269|PubMed:30030519"
FT BINDING 368
FT /ligand="Mg(2+)"
FT /ligand_id="ChEBI:CHEBI:18420"
FT /ligand_note="ligand shared with MT-CO2"
FT /evidence="ECO:0000269|PubMed:30030519"
FT BINDING 369
FT /ligand="Mg(2+)"
FT /ligand_id="ChEBI:CHEBI:18420"
FT /ligand_note="ligand shared with MT-CO2"
FT /evidence="ECO:0000269|PubMed:30030519"
FT BINDING 376
FT /ligand="heme a3"
FT /ligand_id="ChEBI:CHEBI:83282"
FT /ligand_note="high-spin"
FT /ligand_part="Fe"
FT /ligand_part_id="ChEBI:CHEBI:18248"
FT /note="axial binding residue"
FT /evidence="ECO:0000269|PubMed:30030519"
FT BINDING 378
FT /ligand="Fe(II)-heme a"
FT /ligand_id="ChEBI:CHEBI:61715"
FT /ligand_note="low-spin"
FT /ligand_part="Fe"
FT /ligand_part_id="ChEBI:CHEBI:18248"
FT /note="axial binding residue"
FT /evidence="ECO:0000269|PubMed:30030519"
FT CROSSLNK 240..244
FT /note="1'-histidyl-3'-tyrosine (His-Tyr)"
FT /evidence="ECO:0000250|UniProtKB:P00396"
FT VARIANT 10
FT /note="T -> A"
FT /evidence="ECO:0000269|PubMed:1757091"
FT /id="VAR_008566"
FT VARIANT 94
FT /note="F -> C"
FT /evidence="ECO:0000269|PubMed:1757091"
FT /id="VAR_008567"
FT VARIANT 125
FT /note="G -> D (in CRC; displays steady-state catalytic
FT activity linked to proton pumping that is approximately 34%
FT of wild-type; an intrinsic proton leak is find in the
FT enzyme, which will lead to decreased overall energy-
FT conversion efficiency of the respiratory chain, perturbing
FT transport processes such as protein, ion and metabolite
FT trafficking; dbSNP:rs281865417)"
FT /evidence="ECO:0000269|PubMed:16407113,
FT ECO:0000269|PubMed:19218458"
FT /id="VAR_064154"
FT VARIANT 142
FT /note="S -> F (in MT-C4D; significant decrease in enzyme
FT activity; dbSNP:rs267606883)"
FT /evidence="ECO:0000269|PubMed:16284789"
FT /id="VAR_033055"
FT VARIANT 155
FT /note="V -> L (in dbSNP:rs370673798)"
FT /evidence="ECO:0000269|PubMed:1757091"
FT /id="VAR_008568"
FT VARIANT 196
FT /note="L -> I (in MT-C4D; dbSNP:rs28461189)"
FT /evidence="ECO:0000269|PubMed:12140182"
FT /id="VAR_033056"
FT VARIANT 224
FT /note="G -> A"
FT /evidence="ECO:0000269|PubMed:1757091"
FT /id="VAR_008569"
FT VARIANT 235
FT /note="F -> S (in dbSNP:rs2853818)"
FT /evidence="ECO:0000269|PubMed:7530363"
FT /id="VAR_011342"
FT VARIANT 273
FT /note="M -> T (found in two patients with acquired
FT idiopathic sideroblastic anemia; dbSNP:rs199476127)"
FT /evidence="ECO:0000269|PubMed:9389715,
FT ECO:0000269|PubMed:9851701"
FT /id="VAR_008385"
FT VARIANT 280
FT /note="I -> T (found in two patients with acquired
FT idiopathic sideroblastic anemia; dbSNP:rs199476126)"
FT /evidence="ECO:0000269|PubMed:9389715,
FT ECO:0000269|PubMed:9851701"
FT /id="VAR_008386"
FT VARIANT 305
FT /note="F -> L (in dbSNP:rs368552121)"
FT /evidence="ECO:0000269|PubMed:1757091"
FT /id="VAR_008570"
FT VARIANT 415
FT /note="T -> A (in dbSNP:rs372136420)"
FT /evidence="ECO:0000269|PubMed:7530363"
FT /id="VAR_011343"
FT VARIANT 458
FT /note="S -> P (in CRC; the mutant is probably not
FT expressed, indicating that the amino acid substitution
FT results in a severely altered overall structure of the
FT enzyme; dbSNP:rs267606884)"
FT /evidence="ECO:0000269|PubMed:16407113,
FT ECO:0000269|PubMed:19218458"
FT /id="VAR_064155"
FT VARIANT 513
FT /note="S -> SKQK (in LHON; secondary mutation; does not
FT seem to directly cause the disease)"
FT /evidence="ECO:0000269|PubMed:1322638"
FT /id="VAR_008387"
SQ SEQUENCE 513 AA; 57041 MW; DBCBFE808650AE0D CRC64;
MFADRWLFST NHKDIGTLYL LFGAWAGVLG TALSLLIRAE LGQPGNLLGN DHIYNVIVTA
HAFVMIFFMV MPIMIGGFGN WLVPLMIGAP DMAFPRMNNM SFWLLPPSLL LLLASAMVEA
GAGTGWTVYP PLAGNYSHPG ASVDLTIFSL HLAGVSSILG AINFITTIIN MKPPAMTQYQ
TPLFVWSVLI TAVLLLLSLP VLAAGITMLL TDRNLNTTFF DPAGGGDPIL YQHLFWFFGH
PEVYILILPG FGMISHIVTY YSGKKEPFGY MGMVWAMMSI GFLGFIVWAH HMFTVGMDVD
TRAYFTSATM IIAIPTGVKV FSWLATLHGS NMKWSAAVLW ALGFIFLFTV GGLTGIVLAN
SSLDIVLHDT YYVVAHFHYV LSMGAVFAIM GGFIHWFPLF SGYTLDQTYA KIHFTIMFIG
VNLTFFPQHF LGLSGMPRRY SDYPDAYTTW NILSSVGSFI SLTAVMLMIF MIWEAFASKR
KVLMVEEPSM NLEWLYGCPP PYHTFEEPVY MKS
