MT-CYB

Functionⁱ

Component of the ubiquinol-cytochrome c reductase complex (complex III or cytochrome b-c1 complex), which is a respiratory chain that generates an electrochemical potential coupled to ATP synthesis.By similarity

Cofactorⁱ

hemeBy similarityNote: Binds 2 heme groups non-covalently.By similarity

Sites

Feature key	Position(s)	Length	Description
Metal bindingⁱ	83 – 83	1	Iron 1 (heme b562 axial ligand)
Metal bindingⁱ	97 – 97	1	Iron 2 (heme b566 axial ligand)
Metal bindingⁱ	182 – 182	1	Iron 1 (heme b562 axial ligand)
Metal bindingⁱ	196 – 196	1	Iron 2 (heme b566 axial ligand)

GO - Molecular functionⁱ

electron carrier activity Source: InterPro
metal ion binding Source: UniProtKB-KW
ubiquinol-cytochrome-c reductase activity
Source: UniProtKB
Non-traceable author statementⁱ
- 6100559

Enzyme and pathway databases

Reactomeⁱ	REACT_22393. Respiratory electron transport.

Reactomeⁱ

REACT_22393. Respiratory electron transport.

Names & Taxonomyⁱ

Protein namesⁱ	Recommended name: Cytochrome b Alternative name(s): Complex III subunit 3 Complex III subunit III Cytochrome b-c1 complex subunit 3 Ubiquinol-cytochrome-c reductase complex cytochrome b subunit
Gene namesⁱ	Name:MT-CYB Synonyms:COB, CYTB, MTCYB
Encoded onⁱ	Mitochondrion
Organismⁱ	Homo sapiens (Human)
Taxonomic identifierⁱ	9606 [NCBI]
Taxonomic lineageⁱ	cellular organisms › Eukaryota › Opisthokonta › Metazoa › Eumetazoa › Bilateria › Deuterostomia › Chordata › Craniata › Vertebrata › Gnathostomata › Teleostomi › Euteleostomi › Sarcopterygii › Dipnotetrapodomorpha › Tetrapoda › Amniota › Mammalia › Theria › Eutheria › Boreoeutheria › Euarchontoglires › Primates › Haplorrhini › Simiiformes › Catarrhini › Hominoidea › Hominidae › Homininae › Homo
Proteomesⁱ	UP000005640: Mitochondrion

Organism-specific databases

HGNCⁱ	HGNC:7427. MT-CYB.

HGNCⁱ

HGNC:7427. MT-CYB.

Subcellular locationⁱ

Mitochondrion inner membrane By similarity; Multi-pass membrane protein By similarity

Topology

Feature key	Position(s)	Length	Description	Actions
Transmembraneⁱ	33 – 53	21	HelicalSequence Analysis	Add BLAST
Transmembraneⁱ	76 – 98	23	HelicalSequence Analysis	Add BLAST
Transmembraneⁱ	115 – 135	21	HelicalSequence Analysis	Add BLAST
Transmembraneⁱ	138 – 158	21	HelicalSequence Analysis	Add BLAST
Transmembraneⁱ	178 – 198	21	HelicalSequence Analysis	Add BLAST
Transmembraneⁱ	230 – 250	21	HelicalSequence Analysis	Add BLAST
Transmembraneⁱ	288 – 308	21	HelicalSequence Analysis	Add BLAST
Transmembraneⁱ	323 – 343	21	HelicalSequence Analysis	Add BLAST
Transmembraneⁱ	349 – 369	21	HelicalSequence Analysis	Add BLAST

GO - Cellular componentⁱ

mitochondrial inner membrane Source: Reactome
mitochondrial respiratory chain complex III
Source: UniProtKB
Non-traceable author statementⁱ
- 6100559
mitochondrion
Source: UniProtKB
Inferred from direct assayⁱ
- 20833797

Complete GO annotation...

Keywords - Cellular componentⁱ

Membrane, Mitochondrion, Mitochondrion inner membrane

Pathology & Biotechⁱ

Involvement in diseaseⁱ

Defects in MT-CYB are a rare cause of mitochondrial dysfunction underlying different myopathies. They include mitochondrial encephalomyopathy, hypertrophic cardiomyopathy (HCM), and sporadic mitochondrial myopathy (MM). In mitochondrial myopathy, exercise intolerance is the predominant symptom. Additional features include lactic acidosis, muscle weakness and/or myoglobinuria. Defects in MTCYB are also found in cases of exercise intolerance accompanied by deafness, mental retardation, retinitis pigmentosa, cataract, growth retardation, epilepsy (multisystem disorder).2 Publications

Cardiomyopathy, infantile histiocytoid (CMIH)

[MIM:500000]: A heart disease characterized by the presence of pale granular foamy histiocyte-like cells within the myocardium. It usually affects children younger than 2 years of age, with a clear predominance of females over males. Infants present with dysrhythmia or cardiac arrest. The clinical course is usually fulminant, sometimes simulating sudden infant death syndrome.1 Publication
Note: The disease is caused by mutations affecting the gene represented in this entry.

Feature key	Position(s)	Length	Description	Graphical view	Feature identifier	Actions
Natural variantⁱ	251 – 251	1	G → D in CMIH. 1 Publication Manual assertion based on experiment inⁱ Ref.17 "A missense mutation in the mitochondrial cytochrome b gene in a revisited case with histiocytoid cardiomyopathy." Andreu A.L., Checcarelli N., Iwata S., Shanske S., DiMauro S. Pediatr. Res. 48:311-314(2000) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT CMIH ASP-251.		VAR_013656

Leber hereditary optic neuropathy (LHON)

[MIM:535000]: A maternally inherited disease resulting in acute or subacute loss of central vision, due to optic nerve dysfunction. Cardiac conduction defects and neurological defects have also been described in some patients. LHON results from primary mitochondrial DNA mutations affecting the respiratory chain complexes.1 Publication
Note: The disease is caused by mutations affecting distinct genetic loci, including the gene represented in this entry.

Feature key	Position(s)	Length	Description	Graphical view	Feature identifier	Actions
Natural variantⁱ	171 – 171	1	D → N in LHON; secondary mutation; does not seem to directly cause the disease. 1 Publication Manual assertion based on experiment inⁱ Ref.11 "Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy." Brown M.D., Voljavec A.S., Lott M.T., Torroni A., Yang C.C., Wallace D.C. Genetics 130:163-173(1992) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS LHON ASN-171 AND MET-356.		VAR_002197
Natural variantⁱ	356 – 356	1	V → M in LHON; secondary mutation; does not seem to directly cause the disease. 2 Publications Manual assertion based on experiment inⁱ Ref.5 "Mitochondrial genome variation and the origin of modern humans." Ingman M., Kaessmann H., Paeaebo S., Gyllensten U. Nature 408:708-713(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-378, VARIANTS ILE-7; SER-8; LEU-18; VAL-39; THR-78; THR-122; ALA-123; THR-153; ALA-194; THR-229; ILE-236; THR-306; THR-329; VAL-334; MET-353; MET-356 AND ILE-368. Ref.11 "Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy." Brown M.D., Voljavec A.S., Lott M.T., Torroni A., Yang C.C., Wallace D.C. Genetics 130:163-173(1992) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS LHON ASN-171 AND MET-356.		VAR_002199

Keywords - Diseaseⁱ

Cardiomyopathy, Cataract, Deafness, Disease mutation, Leber hereditary optic neuropathy

Organism-specific databases

MIMⁱ	500000. phenotype. 535000. phenotype.
Orphanetⁱ	137675. Histiocytoid cardiomyopathy. 1460. Isolated CoQ-cytochrome C reductase deficiency. 104. Leber hereditary optic neuropathy.
PharmGKBⁱ	PA31234.

PTM / Processingⁱ

Molecule processing

Feature key	Position(s)	Length	Description	Graphical view	Feature identifier	Actions
Chainⁱ	1 – 380	380	Cytochrome b		PRO_0000061045	Add BLAST

Proteomic databases

MaxQBⁱ	P00156.
PaxDbⁱ	P00156.
PRIDEⁱ	P00156.

PTM databases

PhosphoSiteⁱ	P00156.

PhosphoSiteⁱ

P00156.

Expressionⁱ

Gene expression databases

ExpressionAtlasⁱ	P00156. baseline.
Genevestigatorⁱ	P00156.

Organism-specific databases

HPAⁱ	CAB032215.

Interactionⁱ

Subunit structureⁱ

The bc1 complex contains 11 subunits: 3 respiratory subunits (cytochrome b, cytochrome c1 and Rieske/UQCRFS1), 2 core proteins (UQCRC1/QCR1 and UQCRC2/QCR2) and 6 low-molecular weight proteins (UQCRH/QCR6, UQCRB/QCR7, UQCRQ/QCR8, UQCR10/QCR9, UQCR11/QCR10 and a cleavage product of Rieske/UQCRFS1).

Protein-protein interaction databases

BioGridⁱ	110619. 2 interactions.
IntActⁱ	P00156. 1 interaction.

Structureⁱ

3D structure databases

ProteinModelPortalⁱ	P00156.
SMRⁱ	P00156. Positions 15-379.
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Family & Domainsⁱ

Sequence similaritiesⁱ

Belongs to the cytochrome b family.PROSITE-ProRule annotation

Keywords - Domainⁱ

Transmembrane, Transmembrane helix

Phylogenomic databases

eggNOGⁱ	COG1290.
HOVERGENⁱ	HBG017694.
InParanoidⁱ	P00156.
KOⁱ	K00412.
OMAⁱ	EWYFLAN.
OrthoDBⁱ	EOG7BGHKX.
PhylomeDBⁱ	P00156.
TreeFamⁱ	TF353088.

Family and domain databases

Gene3Dⁱ	1.20.810.10. 1 hit.
InterProⁱ	IPR005798. Cyt_b/b6_C. IPR005797. Cyt_b/b6_N. IPR027387. Cytb/b6-like. IPR016174. Di-haem_cyt_TM. [Graphical view]
Pfamⁱ	PF00032. Cytochrom_B_C. 1 hit. PF13631. Cytochrom_B_N_2. 1 hit. [Graphical view]
SUPFAMⁱ	SSF81342. SSF81342. 1 hit. SSF81648. SSF81648. 1 hit.
PROSITEⁱ	PS51003. CYTB_CTER. 1 hit. PS51002. CYTB_NTER. 1 hit. [Graphical view]

Sequenceⁱ

Sequence statusⁱ: Complete.

P00156-1 [UniParc]FASTA Add to Basket

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        10         20         30         40         50
MTPMRKTNPL MKLINHSFID LPTPSNISAW WNFGSLLGAC LILQITTGLF 
        60         70         80         90        100
LAMHYSPDAS TAFSSIAHIT RDVNYGWIIR YLHANGASMF FICLFLHIGR 
       110        120        130        140        150
GLYYGSFLYS ETWNIGIILL LATMATAFMG YVLPWGQMSF WGATVITNLL 
       160        170        180        190        200
SAIPYIGTDL VQWIWGGYSV DSPTLTRFFT FHFILPFIIA ALATLHLLFL 
       210        220        230        240        250
HETGSNNPLG ITSHSDKITF HPYYTIKDAL GLLLFLLSLM TLTLFSPDLL 
       260        270        280        290        300
GDPDNYTLAN PLNTPPHIKP EWYFLFAYTI LRSVPNKLGG VLALLLSILI 
       310        320        330        340        350
LAMIPILHMS KQQSMMFRPL SQSLYWLLAA DLLILTWIGG QPVSYPFTII 
       360        370        380
GQVASVLYFT TILILMPTIS LIENKMLKWA

Length:380

Mass (Da):42,718

Last modified:October 3, 2012 - v2

Checksum:ⁱ600E520C262E5498

GO

Natural variant

Feature key	Position(s)	Length	Description	Feature identifier
Natural variantⁱ	7 – 7	1	T → I.8 Publications Manual assertion based on experiment inⁱ Ref.3 "Novel mutations in mitochondrial cytochrome b in fatal post partum cardiomyopathy." Marin-Garcia J., Ananthakrishnan R., Gonzalvo A., Goldenthal M.J. J. Inherit. Metab. Dis. 18:77-78(1995) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS ILE-7 AND CARDIOMYOPATHY HIS-255. Ref.4 "Recent African origin of modern humans revealed by complete sequences of hominoid mitochondrial DNAs." Horai S., Hayasaka K., Kondo R., Tsugane K., Takahata N. Proc. Natl. Acad. Sci. U.S.A. 92:532-536(1995) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS ILE-7; THR-191; ALA-194 AND THR-229. Ref.5 "Mitochondrial genome variation and the origin of modern humans." Ingman M., Kaessmann H., Paeaebo S., Gyllensten U. Nature 408:708-713(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-378, VARIANTS ILE-7; SER-8; LEU-18; VAL-39; THR-78; THR-122; ALA-123; THR-153; ALA-194; THR-229; ILE-236; THR-306; THR-329; VAL-334; MET-353; MET-356 AND ILE-368. Ref.6 "Major genomic mitochondrial lineages delineate early human expansions." Maca-Meyer N., Gonzalez A.M., Larruga J.M., Flores C., Cabrera V.M. BMC Genet. 2:13-13(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-378, VARIANTS ILE-7; SER-8; LEU-18; THR-122; VAL-164; 189-VAL-THR-190; ALA-194; THR-229; ILE-236; THR-330; ALA-360 AND ILE-368. Ref.7 "Mitochondrial genome diversity of native Americans supports a single early entry of founder populations into America." Silva W.A. Jr., Bonatto S.L., Holanda A.J., Ribeiro-Dos-Santos A.K., Paixao B.M., Goldman G.H., Abe-Sandes K., Rodriguez-Delfin L., Barbosa M., Paco-Larson M.L., Petzl-Erler M.L., Valente V., Santos S.E., Zago M.A. Am. J. Hum. Genet. 71:187-192(2002) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-378, VARIANTS ILE-7; THR-39; VAL-78; THR-191; ALA-194 AND ASP-260. Ref.10 "Normal variants of human mitochondrial DNA and translation products: the building of a reference data base." Marzuki S., Noer A.S., Lertrit P., Thyagarajan D., Kapsa R., Utthanaphol P., Byrne E. Hum. Genet. 88:139-145(1991) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS ILE-7 AND PRO-87. Ref.15 "A mitochondrial cytochrome b mutation but no mutations of nuclearly encoded subunits in ubiquinol cytochrome c reductase (complex III) deficiency." Valnot I., Kassis J., Chretien D., de Lonlay P., Parfait B., Munnich A., Kachaner J., Rustin P., Roetig A. Hum. Genet. 104:460-466(1999) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT HCM GLU-166, VARIANTS ILE-7; SER-8; LEU-18; ALA-194; ILE-236 AND THR-316. Ref.22 "Initial characterization of the human central proteome." Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J. BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT [LARGE SCALE ANALYSIS] ILE-7, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]. Corresponds to variant rs3135031 [ dbSNP \| Ensembl ].	VAR_008585
Natural variantⁱ	8 – 8	1	N → S.3 Publications Manual assertion based on experiment inⁱ Ref.5 "Mitochondrial genome variation and the origin of modern humans." Ingman M., Kaessmann H., Paeaebo S., Gyllensten U. Nature 408:708-713(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-378, VARIANTS ILE-7; SER-8; LEU-18; VAL-39; THR-78; THR-122; ALA-123; THR-153; ALA-194; THR-229; ILE-236; THR-306; THR-329; VAL-334; MET-353; MET-356 AND ILE-368. Ref.6 "Major genomic mitochondrial lineages delineate early human expansions." Maca-Meyer N., Gonzalez A.M., Larruga J.M., Flores C., Cabrera V.M. BMC Genet. 2:13-13(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-378, VARIANTS ILE-7; SER-8; LEU-18; THR-122; VAL-164; 189-VAL-THR-190; ALA-194; THR-229; ILE-236; THR-330; ALA-360 AND ILE-368. Ref.15 "A mitochondrial cytochrome b mutation but no mutations of nuclearly encoded subunits in ubiquinol cytochrome c reductase (complex III) deficiency." Valnot I., Kassis J., Chretien D., de Lonlay P., Parfait B., Munnich A., Kachaner J., Rustin P., Roetig A. Hum. Genet. 104:460-466(1999) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT HCM GLU-166, VARIANTS ILE-7; SER-8; LEU-18; ALA-194; ILE-236 AND THR-316. Corresponds to variant rs28357679 [ dbSNP \| Ensembl ].	VAR_013643
Natural variantⁱ	18 – 18	1	F → L.3 Publications Manual assertion based on experiment inⁱ Ref.5 "Mitochondrial genome variation and the origin of modern humans." Ingman M., Kaessmann H., Paeaebo S., Gyllensten U. Nature 408:708-713(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-378, VARIANTS ILE-7; SER-8; LEU-18; VAL-39; THR-78; THR-122; ALA-123; THR-153; ALA-194; THR-229; ILE-236; THR-306; THR-329; VAL-334; MET-353; MET-356 AND ILE-368. Ref.6 "Major genomic mitochondrial lineages delineate early human expansions." Maca-Meyer N., Gonzalez A.M., Larruga J.M., Flores C., Cabrera V.M. BMC Genet. 2:13-13(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-378, VARIANTS ILE-7; SER-8; LEU-18; THR-122; VAL-164; 189-VAL-THR-190; ALA-194; THR-229; ILE-236; THR-330; ALA-360 AND ILE-368. Ref.15 "A mitochondrial cytochrome b mutation but no mutations of nuclearly encoded subunits in ubiquinol cytochrome c reductase (complex III) deficiency." Valnot I., Kassis J., Chretien D., de Lonlay P., Parfait B., Munnich A., Kachaner J., Rustin P., Roetig A. Hum. Genet. 104:460-466(1999) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT HCM GLU-166, VARIANTS ILE-7; SER-8; LEU-18; ALA-194; ILE-236 AND THR-316. Corresponds to variant rs28357681 [ dbSNP \| Ensembl ].	VAR_013644
Natural variantⁱ	34 – 34	1	G → S in mitochondrial myopathy; sporadic. 1 Publication Manual assertion based on experiment inⁱ Ref.16 "Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA." Andreu A.L., Hanna M.G., Reichmann H., Bruno C., Penn A.S., Tanji K., Pallotti F., Iwata S., Bonilla E., Lach B., Morgan-Hughes J., DiMauro S. N. Engl. J. Med. 341:1037-1044(1999) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS MM SER-34 AND 251-GLY--LEU-258 DEL.	VAR_013645
Natural variantⁱ	35 – 35	1	S → P in exercice intolerance; with cardiomyopathy and septo-optic dysplasia. 1 Publication Manual assertion based on experiment inⁱ Ref.20 "Septo-optic dysplasia associated with a new mitochondrial cytochrome b mutation." Schuelke M., Krude H., Finckh B., Mayatepek E., Janssen A., Schmelz M., Trefz F., Trijbels F., Smeitink J. Ann. Neurol. 51:388-392(2002) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT EXERCICE INTOLERANCE PRO-35.	VAR_033058
Natural variantⁱ	39 – 39	1	A → T.1 Publication Manual assertion based on experiment inⁱ Ref.7 "Mitochondrial genome diversity of native Americans supports a single early entry of founder populations into America." Silva W.A. Jr., Bonatto S.L., Holanda A.J., Ribeiro-Dos-Santos A.K., Paixao B.M., Goldman G.H., Abe-Sandes K., Rodriguez-Delfin L., Barbosa M., Paco-Larson M.L., Petzl-Erler M.L., Valente V., Santos S.E., Zago M.A. Am. J. Hum. Genet. 71:187-192(2002) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-378, VARIANTS ILE-7; THR-39; VAL-78; THR-191; ALA-194 AND ASP-260.	VAR_015571
Natural variantⁱ	39 – 39	1	A → V.1 Publication Manual assertion based on experiment inⁱ Ref.5 "Mitochondrial genome variation and the origin of modern humans." Ingman M., Kaessmann H., Paeaebo S., Gyllensten U. Nature 408:708-713(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-378, VARIANTS ILE-7; SER-8; LEU-18; VAL-39; THR-78; THR-122; ALA-123; THR-153; ALA-194; THR-229; ILE-236; THR-306; THR-329; VAL-334; MET-353; MET-356 AND ILE-368.	VAR_013646
Natural variantⁱ	78 – 78	1	I → T.1 Publication Manual assertion based on experiment inⁱ Ref.5 "Mitochondrial genome variation and the origin of modern humans." Ingman M., Kaessmann H., Paeaebo S., Gyllensten U. Nature 408:708-713(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-378, VARIANTS ILE-7; SER-8; LEU-18; VAL-39; THR-78; THR-122; ALA-123; THR-153; ALA-194; THR-229; ILE-236; THR-306; THR-329; VAL-334; MET-353; MET-356 AND ILE-368.	VAR_013647
Natural variantⁱ	78 – 78	1	I → V.1 Publication Manual assertion based on experiment inⁱ Ref.7 "Mitochondrial genome diversity of native Americans supports a single early entry of founder populations into America." Silva W.A. Jr., Bonatto S.L., Holanda A.J., Ribeiro-Dos-Santos A.K., Paixao B.M., Goldman G.H., Abe-Sandes K., Rodriguez-Delfin L., Barbosa M., Paco-Larson M.L., Petzl-Erler M.L., Valente V., Santos S.E., Zago M.A. Am. J. Hum. Genet. 71:187-192(2002) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-378, VARIANTS ILE-7; THR-39; VAL-78; THR-191; ALA-194 AND ASP-260.	VAR_015572
Natural variantⁱ	80 – 80	1	R → H in colorectal cancer. 1 Publication Manual assertion based on experiment inⁱ Ref.14 "Somatic mutations of the mitochondrial genome in human colorectal tumours." Polyak K., Li Y., Zhu H., Lengauer C., Willson J.K.V., Markowitz S.D., Trush M.A., Kinzler K.W., Vogelstein B. Nat. Genet. 20:291-293(1998) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS COLORECTAL CANCER HIS-80 AND LEU-276.	VAR_008388
Natural variantⁱ	87 – 87	1	A → P.1 Publication Manual assertion based on experiment inⁱ Ref.10 "Normal variants of human mitochondrial DNA and translation products: the building of a reference data base." Marzuki S., Noer A.S., Lertrit P., Thyagarajan D., Kapsa R., Utthanaphol P., Byrne E. Hum. Genet. 88:139-145(1991) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS ILE-7 AND PRO-87.	VAR_008586
Natural variantⁱ	122 – 122	1	A → T.2 Publications Manual assertion based on experiment inⁱ Ref.5 "Mitochondrial genome variation and the origin of modern humans." Ingman M., Kaessmann H., Paeaebo S., Gyllensten U. Nature 408:708-713(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-378, VARIANTS ILE-7; SER-8; LEU-18; VAL-39; THR-78; THR-122; ALA-123; THR-153; ALA-194; THR-229; ILE-236; THR-306; THR-329; VAL-334; MET-353; MET-356 AND ILE-368. Ref.6 "Major genomic mitochondrial lineages delineate early human expansions." Maca-Meyer N., Gonzalez A.M., Larruga J.M., Flores C., Cabrera V.M. BMC Genet. 2:13-13(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-378, VARIANTS ILE-7; SER-8; LEU-18; THR-122; VAL-164; 189-VAL-THR-190; ALA-194; THR-229; ILE-236; THR-330; ALA-360 AND ILE-368. Corresponds to variant rs28357685 [ dbSNP \| Ensembl ].	VAR_013648
Natural variantⁱ	123 – 123	1	T → A.1 Publication Manual assertion based on experiment inⁱ Ref.5 "Mitochondrial genome variation and the origin of modern humans." Ingman M., Kaessmann H., Paeaebo S., Gyllensten U. Nature 408:708-713(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-378, VARIANTS ILE-7; SER-8; LEU-18; VAL-39; THR-78; THR-122; ALA-123; THR-153; ALA-194; THR-229; ILE-236; THR-306; THR-329; VAL-334; MET-353; MET-356 AND ILE-368.	VAR_013649
Natural variantⁱ	151 – 151	1	S → P in exercise intolerance. 1 Publication Manual assertion based on experiment inⁱ Ref.19 "Functional characterization of novel mutations in the human cytochrome b gene." Legros F., Chatzoglou E., Frachon P., de Baulny H.O., Laforet P., Jardel C., Godinot C., Lombes A. Eur. J. Hum. Genet. 9:510-518(2001) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT EXERCISE INTOLERANCE PRO-151.	VAR_013650
Natural variantⁱ	153 – 153	1	I → T.1 Publication Manual assertion based on experiment inⁱ Ref.5 "Mitochondrial genome variation and the origin of modern humans." Ingman M., Kaessmann H., Paeaebo S., Gyllensten U. Nature 408:708-713(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-378, VARIANTS ILE-7; SER-8; LEU-18; VAL-39; THR-78; THR-122; ALA-123; THR-153; ALA-194; THR-229; ILE-236; THR-306; THR-329; VAL-334; MET-353; MET-356 AND ILE-368. Corresponds to variant rs28357687 [ dbSNP \| Ensembl ].	VAR_013651
Natural variantⁱ	164 – 164	1	I → V.1 Publication Manual assertion based on experiment inⁱ Ref.6 "Major genomic mitochondrial lineages delineate early human expansions." Maca-Meyer N., Gonzalez A.M., Larruga J.M., Flores C., Cabrera V.M. BMC Genet. 2:13-13(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-378, VARIANTS ILE-7; SER-8; LEU-18; THR-122; VAL-164; 189-VAL-THR-190; ALA-194; THR-229; ILE-236; THR-330; ALA-360 AND ILE-368.	VAR_013652
Natural variantⁱ	166 – 166	1	G → E in hyperthrophic cardiomyopathy. 1 Publication Manual assertion based on experiment inⁱ Ref.15 "A mitochondrial cytochrome b mutation but no mutations of nuclearly encoded subunits in ubiquinol cytochrome c reductase (complex III) deficiency." Valnot I., Kassis J., Chretien D., de Lonlay P., Parfait B., Munnich A., Kachaner J., Rustin P., Roetig A. Hum. Genet. 104:460-466(1999) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT HCM GLU-166, VARIANTS ILE-7; SER-8; LEU-18; ALA-194; ILE-236 AND THR-316.	VAR_013653
Natural variantⁱ	171 – 171	1	D → N in LHON; secondary mutation; does not seem to directly cause the disease. 1 Publication Manual assertion based on experiment inⁱ Ref.11 "Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy." Brown M.D., Voljavec A.S., Lott M.T., Torroni A., Yang C.C., Wallace D.C. Genetics 130:163-173(1992) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS LHON ASN-171 AND MET-356.	VAR_002197
Natural variantⁱ	189 – 190	2	IA → VT.	VAR_013654
Natural variantⁱ	191 – 191	1	A → T.2 Publications Manual assertion based on experiment inⁱ Ref.4 "Recent African origin of modern humans revealed by complete sequences of hominoid mitochondrial DNAs." Horai S., Hayasaka K., Kondo R., Tsugane K., Takahata N. Proc. Natl. Acad. Sci. U.S.A. 92:532-536(1995) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS ILE-7; THR-191; ALA-194 AND THR-229. Ref.7 "Mitochondrial genome diversity of native Americans supports a single early entry of founder populations into America." Silva W.A. Jr., Bonatto S.L., Holanda A.J., Ribeiro-Dos-Santos A.K., Paixao B.M., Goldman G.H., Abe-Sandes K., Rodriguez-Delfin L., Barbosa M., Paco-Larson M.L., Petzl-Erler M.L., Valente V., Santos S.E., Zago M.A. Am. J. Hum. Genet. 71:187-192(2002) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-378, VARIANTS ILE-7; THR-39; VAL-78; THR-191; ALA-194 AND ASP-260.	VAR_011339
Natural variantⁱ	194 – 194	1	T → A.5 Publications Manual assertion based on experiment inⁱ Ref.4 "Recent African origin of modern humans revealed by complete sequences of hominoid mitochondrial DNAs." Horai S., Hayasaka K., Kondo R., Tsugane K., Takahata N. Proc. Natl. Acad. Sci. U.S.A. 92:532-536(1995) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS ILE-7; THR-191; ALA-194 AND THR-229. Ref.5 "Mitochondrial genome variation and the origin of modern humans." Ingman M., Kaessmann H., Paeaebo S., Gyllensten U. Nature 408:708-713(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-378, VARIANTS ILE-7; SER-8; LEU-18; VAL-39; THR-78; THR-122; ALA-123; THR-153; ALA-194; THR-229; ILE-236; THR-306; THR-329; VAL-334; MET-353; MET-356 AND ILE-368. Ref.6 "Major genomic mitochondrial lineages delineate early human expansions." Maca-Meyer N., Gonzalez A.M., Larruga J.M., Flores C., Cabrera V.M. BMC Genet. 2:13-13(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-378, VARIANTS ILE-7; SER-8; LEU-18; THR-122; VAL-164; 189-VAL-THR-190; ALA-194; THR-229; ILE-236; THR-330; ALA-360 AND ILE-368. Ref.7 "Mitochondrial genome diversity of native Americans supports a single early entry of founder populations into America." Silva W.A. Jr., Bonatto S.L., Holanda A.J., Ribeiro-Dos-Santos A.K., Paixao B.M., Goldman G.H., Abe-Sandes K., Rodriguez-Delfin L., Barbosa M., Paco-Larson M.L., Petzl-Erler M.L., Valente V., Santos S.E., Zago M.A. Am. J. Hum. Genet. 71:187-192(2002) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-378, VARIANTS ILE-7; THR-39; VAL-78; THR-191; ALA-194 AND ASP-260. Ref.15 "A mitochondrial cytochrome b mutation but no mutations of nuclearly encoded subunits in ubiquinol cytochrome c reductase (complex III) deficiency." Valnot I., Kassis J., Chretien D., de Lonlay P., Parfait B., Munnich A., Kachaner J., Rustin P., Roetig A. Hum. Genet. 104:460-466(1999) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT HCM GLU-166, VARIANTS ILE-7; SER-8; LEU-18; ALA-194; ILE-236 AND THR-316. Corresponds to variant rs2853508 [ dbSNP \| Ensembl ].	VAR_011340
Natural variantⁱ	229 – 229	1	A → T.3 Publications Manual assertion based on experiment inⁱ Ref.4 "Recent African origin of modern humans revealed by complete sequences of hominoid mitochondrial DNAs." Horai S., Hayasaka K., Kondo R., Tsugane K., Takahata N. Proc. Natl. Acad. Sci. U.S.A. 92:532-536(1995) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS ILE-7; THR-191; ALA-194 AND THR-229. Ref.5 "Mitochondrial genome variation and the origin of modern humans." Ingman M., Kaessmann H., Paeaebo S., Gyllensten U. Nature 408:708-713(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-378, VARIANTS ILE-7; SER-8; LEU-18; VAL-39; THR-78; THR-122; ALA-123; THR-153; ALA-194; THR-229; ILE-236; THR-306; THR-329; VAL-334; MET-353; MET-356 AND ILE-368. Ref.6 "Major genomic mitochondrial lineages delineate early human expansions." Maca-Meyer N., Gonzalez A.M., Larruga J.M., Flores C., Cabrera V.M. BMC Genet. 2:13-13(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-378, VARIANTS ILE-7; SER-8; LEU-18; THR-122; VAL-164; 189-VAL-THR-190; ALA-194; THR-229; ILE-236; THR-330; ALA-360 AND ILE-368. Corresponds to variant rs2853509 [ dbSNP \| Ensembl ].	VAR_011341
Natural variantⁱ	236 – 236	1	L → I.3 Publications Manual assertion based on experiment inⁱ Ref.5 "Mitochondrial genome variation and the origin of modern humans." Ingman M., Kaessmann H., Paeaebo S., Gyllensten U. Nature 408:708-713(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-378, VARIANTS ILE-7; SER-8; LEU-18; VAL-39; THR-78; THR-122; ALA-123; THR-153; ALA-194; THR-229; ILE-236; THR-306; THR-329; VAL-334; MET-353; MET-356 AND ILE-368. Ref.6 "Major genomic mitochondrial lineages delineate early human expansions." Maca-Meyer N., Gonzalez A.M., Larruga J.M., Flores C., Cabrera V.M. BMC Genet. 2:13-13(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-378, VARIANTS ILE-7; SER-8; LEU-18; THR-122; VAL-164; 189-VAL-THR-190; ALA-194; THR-229; ILE-236; THR-330; ALA-360 AND ILE-368. Ref.15 "A mitochondrial cytochrome b mutation but no mutations of nuclearly encoded subunits in ubiquinol cytochrome c reductase (complex III) deficiency." Valnot I., Kassis J., Chretien D., de Lonlay P., Parfait B., Munnich A., Kachaner J., Rustin P., Roetig A. Hum. Genet. 104:460-466(1999) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT HCM GLU-166, VARIANTS ILE-7; SER-8; LEU-18; ALA-194; ILE-236 AND THR-316. Corresponds to variant rs3088309 [ dbSNP \| Ensembl ].	VAR_013655
Natural variantⁱ	251 – 258	8	Missing in mitochondrial myopathy; sporadic. 1 Publication Manual assertion based on experiment inⁱ Ref.16 "Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA." Andreu A.L., Hanna M.G., Reichmann H., Bruno C., Penn A.S., Tanji K., Pallotti F., Iwata S., Bonilla E., Lach B., Morgan-Hughes J., DiMauro S. N. Engl. J. Med. 341:1037-1044(1999) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS MM SER-34 AND 251-GLY--LEU-258 DEL.	VAR_013657
Natural variantⁱ	251 – 251	1	G → D in CMIH. 1 Publication Manual assertion based on experiment inⁱ Ref.17 "A missense mutation in the mitochondrial cytochrome b gene in a revisited case with histiocytoid cardiomyopathy." Andreu A.L., Checcarelli N., Iwata S., Shanske S., DiMauro S. Pediatr. Res. 48:311-314(2000) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT CMIH ASP-251.	VAR_013656
Natural variantⁱ	251 – 251	1	G → S Associated with susceptibility to obesity. 1 Publication Manual assertion based on experiment inⁱ Ref.21 "Association of the mitochondrial DNA 15497G/A polymorphism with obesity in a middle-aged and elderly Japanese population." Okura T., Koda M., Ando F., Niino N., Tanaka M., Shimokata H. Hum. Genet. 113:432-436(2003) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT SER-251.	VAR_033059
Natural variantⁱ	255 – 255	1	N → H in cardiomyopathy; fatal; post-partum. 1 Publication Manual assertion based on experiment inⁱ Ref.3 "Novel mutations in mitochondrial cytochrome b in fatal post partum cardiomyopathy." Marin-Garcia J., Ananthakrishnan R., Gonzalvo A., Goldenthal M.J. J. Inherit. Metab. Dis. 18:77-78(1995) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS ILE-7 AND CARDIOMYOPATHY HIS-255.	VAR_013658
Natural variantⁱ	260 – 260	1	N → D.1 Publication Manual assertion based on experiment inⁱ Ref.7 "Mitochondrial genome diversity of native Americans supports a single early entry of founder populations into America." Silva W.A. Jr., Bonatto S.L., Holanda A.J., Ribeiro-Dos-Santos A.K., Paixao B.M., Goldman G.H., Abe-Sandes K., Rodriguez-Delfin L., Barbosa M., Paco-Larson M.L., Petzl-Erler M.L., Valente V., Santos S.E., Zago M.A. Am. J. Hum. Genet. 71:187-192(2002) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-378, VARIANTS ILE-7; THR-39; VAL-78; THR-191; ALA-194 AND ASP-260.	VAR_015573
Natural variantⁱ	276 – 276	1	F → L in colorectal cancer. 1 Publication Manual assertion based on experiment inⁱ Ref.14 "Somatic mutations of the mitochondrial genome in human colorectal tumours." Polyak K., Li Y., Zhu H., Lengauer C., Willson J.K.V., Markowitz S.D., Trush M.A., Kinzler K.W., Vogelstein B. Nat. Genet. 20:291-293(1998) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS COLORECTAL CANCER HIS-80 AND LEU-276.	VAR_008389
Natural variantⁱ	278 – 278	1	Y → C in multisystem disorder. 1 Publication Manual assertion based on experiment inⁱ Ref.18 "Multisystem disorder associated with a missense mutation in the mitochondrial cytochrome b gene." Wibrand F., Ravn K., Schwartz M., Rosenberg T., Horn N., Vissing J. Ann. Neurol. 50:540-543(2001) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT MULTISYSTEM DISORDER CYS-278.	VAR_013659
Natural variantⁱ	290 – 290	1	G → D in exercise intolerance. 1 Publication Manual assertion based on experiment inⁱ Ref.12 "A novel gly290asp mitochondrial cytochrome b mutation linked to a complex III deficiency in progressive exercise intolerance." Dumoulin R., Sagnol I., Ferlin T., Bozon D., Stepien G., Mousson B. Mol. Cell. Probes 10:389-391(1996) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT EXERCISE INTOLERANCE ASP-290.	VAR_013660
Natural variantⁱ	306 – 306	1	I → T.1 Publication Manual assertion based on experiment inⁱ Ref.5 "Mitochondrial genome variation and the origin of modern humans." Ingman M., Kaessmann H., Paeaebo S., Gyllensten U. Nature 408:708-713(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-378, VARIANTS ILE-7; SER-8; LEU-18; VAL-39; THR-78; THR-122; ALA-123; THR-153; ALA-194; THR-229; ILE-236; THR-306; THR-329; VAL-334; MET-353; MET-356 AND ILE-368.	VAR_013661
Natural variantⁱ	316 – 316	1	M → T.1 Publication Manual assertion based on experiment inⁱ Ref.15 "A mitochondrial cytochrome b mutation but no mutations of nuclearly encoded subunits in ubiquinol cytochrome c reductase (complex III) deficiency." Valnot I., Kassis J., Chretien D., de Lonlay P., Parfait B., Munnich A., Kachaner J., Rustin P., Roetig A. Hum. Genet. 104:460-466(1999) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT HCM GLU-166, VARIANTS ILE-7; SER-8; LEU-18; ALA-194; ILE-236 AND THR-316.	VAR_013662
Natural variantⁱ	329 – 329	1	A → T.1 Publication Manual assertion based on experiment inⁱ Ref.5 "Mitochondrial genome variation and the origin of modern humans." Ingman M., Kaessmann H., Paeaebo S., Gyllensten U. Nature 408:708-713(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-378, VARIANTS ILE-7; SER-8; LEU-18; VAL-39; THR-78; THR-122; ALA-123; THR-153; ALA-194; THR-229; ILE-236; THR-306; THR-329; VAL-334; MET-353; MET-356 AND ILE-368.	VAR_013663
Natural variantⁱ	330 – 330	1	A → T.1 Publication Manual assertion based on experiment inⁱ Ref.6 "Major genomic mitochondrial lineages delineate early human expansions." Maca-Meyer N., Gonzalez A.M., Larruga J.M., Flores C., Cabrera V.M. BMC Genet. 2:13-13(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-378, VARIANTS ILE-7; SER-8; LEU-18; THR-122; VAL-164; 189-VAL-THR-190; ALA-194; THR-229; ILE-236; THR-330; ALA-360 AND ILE-368.	VAR_013664
Natural variantⁱ	334 – 334	1	I → V.1 Publication Manual assertion based on experiment inⁱ Ref.5 "Mitochondrial genome variation and the origin of modern humans." Ingman M., Kaessmann H., Paeaebo S., Gyllensten U. Nature 408:708-713(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-378, VARIANTS ILE-7; SER-8; LEU-18; VAL-39; THR-78; THR-122; ALA-123; THR-153; ALA-194; THR-229; ILE-236; THR-306; THR-329; VAL-334; MET-353; MET-356 AND ILE-368.	VAR_013665
Natural variantⁱ	339 – 339	1	G → E in mitochondrial myopathy. 1 Publication Manual assertion based on experiment inⁱ Ref.13 "Missense mutation in the mtDNA cytochrome b gene in a patient with myopathy." Andreu A.L., Bruno C., Shanske S., Shtilbans A., Hirano M., Krishna S., Hayward L., Systrom D.S., Brown R.H. Jr., Dimauro S. Neurology 51:1444-1447(1998) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANT MM GLU-339.	VAR_002198
Natural variantⁱ	353 – 353	1	V → M.1 Publication Manual assertion based on experiment inⁱ Ref.5 "Mitochondrial genome variation and the origin of modern humans." Ingman M., Kaessmann H., Paeaebo S., Gyllensten U. Nature 408:708-713(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-378, VARIANTS ILE-7; SER-8; LEU-18; VAL-39; THR-78; THR-122; ALA-123; THR-153; ALA-194; THR-229; ILE-236; THR-306; THR-329; VAL-334; MET-353; MET-356 AND ILE-368.	VAR_013666
Natural variantⁱ	356 – 356	1	V → M in LHON; secondary mutation; does not seem to directly cause the disease. 2 Publications Manual assertion based on experiment inⁱ Ref.5 "Mitochondrial genome variation and the origin of modern humans." Ingman M., Kaessmann H., Paeaebo S., Gyllensten U. Nature 408:708-713(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-378, VARIANTS ILE-7; SER-8; LEU-18; VAL-39; THR-78; THR-122; ALA-123; THR-153; ALA-194; THR-229; ILE-236; THR-306; THR-329; VAL-334; MET-353; MET-356 AND ILE-368. Ref.11 "Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy." Brown M.D., Voljavec A.S., Lott M.T., Torroni A., Yang C.C., Wallace D.C. Genetics 130:163-173(1992) [PubMed] [Europe PMC] [Abstract] Cited for: VARIANTS LHON ASN-171 AND MET-356.	VAR_002199
Natural variantⁱ	360 – 360	1	T → A.1 Publication Manual assertion based on experiment inⁱ Ref.6 "Major genomic mitochondrial lineages delineate early human expansions." Maca-Meyer N., Gonzalez A.M., Larruga J.M., Flores C., Cabrera V.M. BMC Genet. 2:13-13(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-378, VARIANTS ILE-7; SER-8; LEU-18; THR-122; VAL-164; 189-VAL-THR-190; ALA-194; THR-229; ILE-236; THR-330; ALA-360 AND ILE-368. Corresponds to variant rs28357376 [ dbSNP \| Ensembl ].	VAR_013667
Natural variantⁱ	368 – 368	1	T → I.2 Publications Manual assertion based on experiment inⁱ Ref.5 "Mitochondrial genome variation and the origin of modern humans." Ingman M., Kaessmann H., Paeaebo S., Gyllensten U. Nature 408:708-713(2000) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-378, VARIANTS ILE-7; SER-8; LEU-18; VAL-39; THR-78; THR-122; ALA-123; THR-153; ALA-194; THR-229; ILE-236; THR-306; THR-329; VAL-334; MET-353; MET-356 AND ILE-368. Ref.6 "Major genomic mitochondrial lineages delineate early human expansions." Maca-Meyer N., Gonzalez A.M., Larruga J.M., Flores C., Cabrera V.M. BMC Genet. 2:13-13(2001) [PubMed] [Europe PMC] [Abstract] Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-378, VARIANTS ILE-7; SER-8; LEU-18; THR-122; VAL-164; 189-VAL-THR-190; ALA-194; THR-229; ILE-236; THR-330; ALA-360 AND ILE-368.	VAR_013668

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	V00662 Genomic DNA. Translation: CAA24038.1. J01415 Genomic DNA. Translation: AAB58955.3. U09500 Genomic DNA. Translation: AAA19775.1. D38112 Genomic DNA. Translation: BAA77674.1. AF346963 Genomic DNA. Translation: AAK17219.1. AF346964 Genomic DNA. Translation: AAK17232.2. AF346965 Genomic DNA. Translation: AAK17245.2. AF346966 Genomic DNA. Translation: AAK17258.1. AF346967 Genomic DNA. Translation: AAK17271.2. AF346968 Genomic DNA. Translation: AAK17284.2. AF346969 Genomic DNA. Translation: AAK17297.2. AF346970 Genomic DNA. Translation: AAK17310.2. AF346971 Genomic DNA. Translation: AAK17323.2. AF346972 Genomic DNA. Translation: AAK17336.2. AF346973 Genomic DNA. Translation: AAK17349.2. AF346974 Genomic DNA. Translation: AAK17362.2. AF346975 Genomic DNA. Translation: AAK17375.2. AF346976 Genomic DNA. Translation: AAK17388.1. AF346977 Genomic DNA. Translation: AAK17401.1. AF346978 Genomic DNA. Translation: AAK17414.1. AF346979 Genomic DNA. Translation: AAK17427.1. AF346980 Genomic DNA. Translation: AAK17440.2. AF346981 Genomic DNA. Translation: AAK17453.2. AF346982 Genomic DNA. Translation: AAK17466.1. AF346983 Genomic DNA. Translation: AAK17479.1. AF346984 Genomic DNA. Translation: AAK17492.2. AF346985 Genomic DNA. Translation: AAK17505.2. AF346986 Genomic DNA. Translation: AAK17518.2. AF346987 Genomic DNA. Translation: AAK17531.2. AF346988 Genomic DNA. Translation: AAK17544.1. AF346989 Genomic DNA. Translation: AAK17557.2. AF346990 Genomic DNA. Translation: AAK17570.1. AF346991 Genomic DNA. Translation: AAK17583.2. AF346992 Genomic DNA. Translation: AAK17596.2. AF346993 Genomic DNA. Translation: AAK17609.2. AF346994 Genomic DNA. Translation: AAK17622.2. AF346995 Genomic DNA. Translation: AAK17635.2. AF346996 Genomic DNA. Translation: AAK17648.2. AF346997 Genomic DNA. Translation: AAK17661.2. AF346998 Genomic DNA. Translation: AAK17674.2. AF346999 Genomic DNA. Translation: AAK17687.2. AF347000 Genomic DNA. Translation: AAK17700.1. AF347001 Genomic DNA. Translation: AAK17713.2. AF347002 Genomic DNA. Translation: AAK17726.2. AF347003 Genomic DNA. Translation: AAK17739.2. AF347004 Genomic DNA. Translation: AAK17752.2. AF347005 Genomic DNA. Translation: AAK17765.2. AF347006 Genomic DNA. Translation: AAK17778.2. AF347007 Genomic DNA. Translation: AAK17791.2. AF347008 Genomic DNA. Translation: AAK17804.2. AF347009 Genomic DNA. Translation: AAK17817.2. AF347010 Genomic DNA. Translation: AAK17830.2. AF347011 Genomic DNA. Translation: AAK17843.2. AF347012 Genomic DNA. Translation: AAK17856.2. AF347013 Genomic DNA. Translation: AAK17869.2. AF347014 Genomic DNA. Translation: AAK17882.2. AF347015 Genomic DNA. Translation: AAK17895.2. AF381981 Genomic DNA. Translation: AAL54394.1. AF381982 Genomic DNA. Translation: AAL54409.1. AF381983 Genomic DNA. Translation: AAL54422.1. AF381984 Genomic DNA. Translation: AAL54435.1. AF381985 Genomic DNA. Translation: AAL54448.1. AF381986 Genomic DNA. Translation: AAL54461.1. AF381987 Genomic DNA. Translation: AAL54474.1. AF381988 Genomic DNA. Translation: AAL54487.1. AF381989 Genomic DNA. Translation: AAL54500.1. AF381990 Genomic DNA. Translation: AAL54513.1. AF381991 Genomic DNA. Translation: AAL54526.1. AF381992 Genomic DNA. Translation: AAL54539.1. AF381993 Genomic DNA. Translation: AAL54552.1. AF381994 Genomic DNA. Translation: AAL54565.1. AF381995 Genomic DNA. Translation: AAL54578.1. AF381996 Genomic DNA. Translation: AAL54591.1. AF381997 Genomic DNA. Translation: AAL54604.1. AF381998 Genomic DNA. Translation: AAL54617.1. AF381999 Genomic DNA. Translation: AAL54630.1. AF382000 Genomic DNA. Translation: AAL54643.1. AF382001 Genomic DNA. Translation: AAL54656.1. AF382002 Genomic DNA. Translation: AAL54669.1. AF382003 Genomic DNA. Translation: AAL54682.1. AF382004 Genomic DNA. Translation: AAL54695.1. AF382005 Genomic DNA. Translation: AAL54708.1. AF382006 Genomic DNA. Translation: AAL54721.1. AF382007 Genomic DNA. Translation: AAL54734.1. AF382008 Genomic DNA. Translation: AAL54747.1. AF382009 Genomic DNA. Translation: AAL54760.1. AF382010 Genomic DNA. Translation: AAL54773.1. AF382011 Genomic DNA. Translation: AAL54786.1. AF382012 Genomic DNA. Translation: AAL54799.1. AF382013 Genomic DNA. Translation: AAL54812.1. AF465942 Genomic DNA. Translation: AAN14559.1. AF465945 Genomic DNA. Translation: AAN14592.1. AF465946 Genomic DNA. Translation: AAN14603.1. AF465947 Genomic DNA. Translation: AAN14614.1. AF465948 Genomic DNA. Translation: AAN14625.1. AF465949 Genomic DNA. Translation: AAN14636.1. AF465953 Genomic DNA. Translation: AAN14680.1. AF465956 Genomic DNA. Translation: AAN14713.1. AF465968 Genomic DNA. Translation: AAN14845.1. AF465971 Genomic DNA. Translation: AAN14878.1. AF465972 Genomic DNA. Translation: AAN14889.1. AF465973 Genomic DNA. Translation: AAN14900.1. AF465974 Genomic DNA. Translation: AAN14911.1. AF465975 Genomic DNA. Translation: AAN14922.1. AF465977 Genomic DNA. Translation: AAN14944.1. M28016 mRNA. Translation: AAA31851.1.
PIRⁱ	A00151. CBHU.
RefSeqⁱ	YP_003024038.1. NC_012920.1.

Genome annotation databases

Ensemblⁱ	ENST00000361789; ENSP00000354554; ENSG00000198727.
GeneIDⁱ	4519.
KEGGⁱ	hsa:4519.

Polymorphism databases

DMDMⁱ	408360043.

DMDMⁱ

408360043.

Keywords - Coding sequence diversityⁱ

Polymorphism

Cross-referencesⁱ

Sequence databases

Select the link destinations: EMBLⁱ GenBankⁱ DDBJⁱ Links Updated	V00662 Genomic DNA. Translation: CAA24038.1 . J01415 Genomic DNA. Translation: AAB58955.3 . U09500 Genomic DNA. Translation: AAA19775.1 . D38112 Genomic DNA. Translation: BAA77674.1 . AF346963 Genomic DNA. Translation: AAK17219.1 . AF346964 Genomic DNA. Translation: AAK17232.2 . AF346965 Genomic DNA. Translation: AAK17245.2 . AF346966 Genomic DNA. Translation: AAK17258.1 . AF346967 Genomic DNA. Translation: AAK17271.2 . AF346968 Genomic DNA. Translation: AAK17284.2 . AF346969 Genomic DNA. Translation: AAK17297.2 . AF346970 Genomic DNA. Translation: AAK17310.2 . AF346971 Genomic DNA. Translation: AAK17323.2 . AF346972 Genomic DNA. Translation: AAK17336.2 . AF346973 Genomic DNA. Translation: AAK17349.2 . AF346974 Genomic DNA. Translation: AAK17362.2 . AF346975 Genomic DNA. Translation: AAK17375.2 . AF346976 Genomic DNA. Translation: AAK17388.1 . AF346977 Genomic DNA. Translation: AAK17401.1 . AF346978 Genomic DNA. Translation: AAK17414.1 . AF346979 Genomic DNA. Translation: AAK17427.1 . AF346980 Genomic DNA. Translation: AAK17440.2 . AF346981 Genomic DNA. Translation: AAK17453.2 . AF346982 Genomic DNA. Translation: AAK17466.1 . AF346983 Genomic DNA. Translation: AAK17479.1 . AF346984 Genomic DNA. Translation: AAK17492.2 . AF346985 Genomic DNA. Translation: AAK17505.2 . AF346986 Genomic DNA. Translation: AAK17518.2 . AF346987 Genomic DNA. Translation: AAK17531.2 . AF346988 Genomic DNA. Translation: AAK17544.1 . AF346989 Genomic DNA. Translation: AAK17557.2 . AF346990 Genomic DNA. Translation: AAK17570.1 . AF346991 Genomic DNA. Translation: AAK17583.2 . AF346992 Genomic DNA. Translation: AAK17596.2 . AF346993 Genomic DNA. Translation: AAK17609.2 . AF346994 Genomic DNA. Translation: AAK17622.2 . AF346995 Genomic DNA. Translation: AAK17635.2 . AF346996 Genomic DNA. Translation: AAK17648.2 . AF346997 Genomic DNA. Translation: AAK17661.2 . AF346998 Genomic DNA. Translation: AAK17674.2 . AF346999 Genomic DNA. Translation: AAK17687.2 . AF347000 Genomic DNA. Translation: AAK17700.1 . AF347001 Genomic DNA. Translation: AAK17713.2 . AF347002 Genomic DNA. Translation: AAK17726.2 . AF347003 Genomic DNA. Translation: AAK17739.2 . AF347004 Genomic DNA. Translation: AAK17752.2 . AF347005 Genomic DNA. Translation: AAK17765.2 . AF347006 Genomic DNA. Translation: AAK17778.2 . AF347007 Genomic DNA. Translation: AAK17791.2 . AF347008 Genomic DNA. Translation: AAK17804.2 . AF347009 Genomic DNA. Translation: AAK17817.2 . AF347010 Genomic DNA. Translation: AAK17830.2 . AF347011 Genomic DNA. Translation: AAK17843.2 . AF347012 Genomic DNA. Translation: AAK17856.2 . AF347013 Genomic DNA. Translation: AAK17869.2 . AF347014 Genomic DNA. Translation: AAK17882.2 . AF347015 Genomic DNA. Translation: AAK17895.2 . AF381981 Genomic DNA. Translation: AAL54394.1 . AF381982 Genomic DNA. Translation: AAL54409.1 . AF381983 Genomic DNA. Translation: AAL54422.1 . AF381984 Genomic DNA. Translation: AAL54435.1 . AF381985 Genomic DNA. Translation: AAL54448.1 . AF381986 Genomic DNA. Translation: AAL54461.1 . AF381987 Genomic DNA. Translation: AAL54474.1 . AF381988 Genomic DNA. Translation: AAL54487.1 . AF381989 Genomic DNA. Translation: AAL54500.1 . AF381990 Genomic DNA. Translation: AAL54513.1 . AF381991 Genomic DNA. Translation: AAL54526.1 . AF381992 Genomic DNA. Translation: AAL54539.1 . AF381993 Genomic DNA. Translation: AAL54552.1 . AF381994 Genomic DNA. Translation: AAL54565.1 . AF381995 Genomic DNA. Translation: AAL54578.1 . AF381996 Genomic DNA. Translation: AAL54591.1 . AF381997 Genomic DNA. Translation: AAL54604.1 . AF381998 Genomic DNA. Translation: AAL54617.1 . AF381999 Genomic DNA. Translation: AAL54630.1 . AF382000 Genomic DNA. Translation: AAL54643.1 . AF382001 Genomic DNA. Translation: AAL54656.1 . AF382002 Genomic DNA. Translation: AAL54669.1 . AF382003 Genomic DNA. Translation: AAL54682.1 . AF382004 Genomic DNA. Translation: AAL54695.1 . AF382005 Genomic DNA. Translation: AAL54708.1 . AF382006 Genomic DNA. Translation: AAL54721.1 . AF382007 Genomic DNA. Translation: AAL54734.1 . AF382008 Genomic DNA. Translation: AAL54747.1 . AF382009 Genomic DNA. Translation: AAL54760.1 . AF382010 Genomic DNA. Translation: AAL54773.1 . AF382011 Genomic DNA. Translation: AAL54786.1 . AF382012 Genomic DNA. Translation: AAL54799.1 . AF382013 Genomic DNA. Translation: AAL54812.1 . AF465942 Genomic DNA. Translation: AAN14559.1 . AF465945 Genomic DNA. Translation: AAN14592.1 . AF465946 Genomic DNA. Translation: AAN14603.1 . AF465947 Genomic DNA. Translation: AAN14614.1 . AF465948 Genomic DNA. Translation: AAN14625.1 . AF465949 Genomic DNA. Translation: AAN14636.1 . AF465953 Genomic DNA. Translation: AAN14680.1 . AF465956 Genomic DNA. Translation: AAN14713.1 . AF465968 Genomic DNA. Translation: AAN14845.1 . AF465971 Genomic DNA. Translation: AAN14878.1 . AF465972 Genomic DNA. Translation: AAN14889.1 . AF465973 Genomic DNA. Translation: AAN14900.1 . AF465974 Genomic DNA. Translation: AAN14911.1 . AF465975 Genomic DNA. Translation: AAN14922.1 . AF465977 Genomic DNA. Translation: AAN14944.1 . M28016 mRNA. Translation: AAA31851.1 .
PIRⁱ	A00151. CBHU.
RefSeqⁱ	YP_003024038.1. NC_012920.1.

3D structure databases

ProteinModelPortalⁱ	P00156.
SMRⁱ	P00156. Positions 15-379.
ModBaseⁱ	Search...
MobiDBⁱ	Search...

Protein-protein interaction databases

BioGridⁱ	110619. 2 interactions.
IntActⁱ	P00156. 1 interaction.

PTM databases

PhosphoSiteⁱ	P00156.

PhosphoSiteⁱ

P00156.

Polymorphism databases

DMDMⁱ	408360043.

DMDMⁱ

408360043.

Proteomic databases

MaxQBⁱ	P00156.
PaxDbⁱ	P00156.
PRIDEⁱ	P00156.

Protocols and materials databases

Structural Biology Knowledgebase	Search...

Structural Biology Knowledgebase

Search...

Genome annotation databases

Ensemblⁱ	ENST00000361789 ; ENSP00000354554 ; ENSG00000198727 .
GeneIDⁱ	4519.
KEGGⁱ	hsa:4519.

Organism-specific databases

CTDⁱ	4519.
GeneCardsⁱ	GCMTP014749.
GeneReviewsⁱ	MT-CYB.
HGNCⁱ	HGNC:7427. MT-CYB.
HPAⁱ	CAB032215.
MIMⁱ	500000. phenotype. 516020. gene. 535000. phenotype.
neXtProtⁱ	NX_P00156.
Orphanetⁱ	137675. Histiocytoid cardiomyopathy. 1460. Isolated CoQ-cytochrome C reductase deficiency. 104. Leber hereditary optic neuropathy.
PharmGKBⁱ	PA31234.
GenAtlasⁱ	Search...

Phylogenomic databases

eggNOGⁱ	COG1290.
HOVERGENⁱ	HBG017694.
InParanoidⁱ	P00156.
KOⁱ	K00412.
OMAⁱ	EWYFLAN.
OrthoDBⁱ	EOG7BGHKX.
PhylomeDBⁱ	P00156.
TreeFamⁱ	TF353088.

Enzyme and pathway databases

Reactomeⁱ	REACT_22393. Respiratory electron transport.

Reactomeⁱ

REACT_22393. Respiratory electron transport.

Miscellaneous databases

GeneWikiⁱ	MT-CYB.
NextBioⁱ	17445.
PROⁱ	P00156.
SOURCEⁱ	Search...

Gene expression databases

ExpressionAtlasⁱ	P00156. baseline.
Genevestigatorⁱ	P00156.

Family and domain databases

Gene3Dⁱ	1.20.810.10. 1 hit.
InterProⁱ	IPR005798. Cyt_b/b6_C. IPR005797. Cyt_b/b6_N. IPR027387. Cytb/b6-like. IPR016174. Di-haem_cyt_TM. [Graphical view ]
Pfamⁱ	PF00032. Cytochrom_B_C. 1 hit. PF13631. Cytochrom_B_N_2. 1 hit. [Graphical view ]
SUPFAMⁱ	SSF81342. SSF81342. 1 hit. SSF81648. SSF81648. 1 hit.
PROSITEⁱ	PS51003. CYTB_CTER. 1 hit. PS51002. CYTB_NTER. 1 hit. [Graphical view ]
ProtoNetⁱ	Search...

Publicationsⁱ

« Hide 'large scale' publications

"Sequence and organization of the human mitochondrial genome."
Anderson S., Bankier A.T., Barrell B.G., de Bruijn M.H.L., Coulson A.R., Drouin J., Eperon I.C., Nierlich D.P., Roe B.A., Sanger F., Schreier P.H., Smith A.J.H., Staden R., Young I.G.
Nature 290:457-465(1981) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
Tissue: Placenta.
"Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA."
Andrews R.M., Kubacka I., Chinnery P.F., Lightowlers R.N., Turnbull D.M., Howell N.
Nat. Genet. 23:147-147(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: SEQUENCE REVISION TO 7.
"Novel mutations in mitochondrial cytochrome b in fatal post partum cardiomyopathy."
Marin-Garcia J., Ananthakrishnan R., Gonzalvo A., Goldenthal M.J.
J. Inherit. Metab. Dis. 18:77-78(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS ILE-7 AND CARDIOMYOPATHY HIS-255.
Tissue: Heart.
"Recent African origin of modern humans revealed by complete sequences of hominoid mitochondrial DNAs."
Horai S., Hayasaka K., Kondo R., Tsugane K., Takahata N.
Proc. Natl. Acad. Sci. U.S.A. 92:532-536(1995) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA], VARIANTS ILE-7; THR-191; ALA-194 AND THR-229.
Tissue: Placenta.
"Mitochondrial genome variation and the origin of modern humans."
Ingman M., Kaessmann H., Paeaebo S., Gyllensten U.
Nature 408:708-713(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-378, VARIANTS ILE-7; SER-8; LEU-18; VAL-39; THR-78; THR-122; ALA-123; THR-153; ALA-194; THR-229; ILE-236; THR-306; THR-329; VAL-334; MET-353; MET-356 AND ILE-368.
"Major genomic mitochondrial lineages delineate early human expansions."
Maca-Meyer N., Gonzalez A.M., Larruga J.M., Flores C., Cabrera V.M.
BMC Genet. 2:13-13(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-378, VARIANTS ILE-7; SER-8; LEU-18; THR-122; VAL-164; 189-VAL-THR-190; ALA-194; THR-229; ILE-236; THR-330; ALA-360 AND ILE-368.
"Mitochondrial genome diversity of native Americans supports a single early entry of founder populations into America."
Silva W.A. Jr., Bonatto S.L., Holanda A.J., Ribeiro-Dos-Santos A.K., Paixao B.M., Goldman G.H., Abe-Sandes K., Rodriguez-Delfin L., Barbosa M., Paco-Larson M.L., Petzl-Erler M.L., Valente V., Santos S.E., Zago M.A.
Am. J. Hum. Genet. 71:187-192(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-378, VARIANTS ILE-7; THR-39; VAL-78; THR-191; ALA-194 AND ASP-260.
"Serendipitous cloning of a mitochondrial cDNA and its polymorphism."
Spurr N.K., Bodmer W.F.
Mol. Biol. Med. 2:239-249(1984) [PubMed] [Europe PMC] [Abstract]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 269-380.
Tissue: Lymphoblast.
"Mitochondrial encephalomyopathy and complex III deficiency associated with a stop-codon mutation in the cytochrome b gene."
Keightley J.A., Anitori R., Burton M.D., Quan F., Buist N.R.M., Kennaway N.G.
Am. J. Hum. Genet. 67:1400-1410(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: DISEASE.
"Normal variants of human mitochondrial DNA and translation products: the building of a reference data base."
Marzuki S., Noer A.S., Lertrit P., Thyagarajan D., Kapsa R., Utthanaphol P., Byrne E.
Hum. Genet. 88:139-145(1991) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS ILE-7 AND PRO-87.
"Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy."
Brown M.D., Voljavec A.S., Lott M.T., Torroni A., Yang C.C., Wallace D.C.
Genetics 130:163-173(1992) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS LHON ASN-171 AND MET-356.
"A novel gly290asp mitochondrial cytochrome b mutation linked to a complex III deficiency in progressive exercise intolerance."
Dumoulin R., Sagnol I., Ferlin T., Bozon D., Stepien G., Mousson B.
Mol. Cell. Probes 10:389-391(1996) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT EXERCISE INTOLERANCE ASP-290.
"Missense mutation in the mtDNA cytochrome b gene in a patient with myopathy."
Andreu A.L., Bruno C., Shanske S., Shtilbans A., Hirano M., Krishna S., Hayward L., Systrom D.S., Brown R.H. Jr., Dimauro S.
Neurology 51:1444-1447(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT MM GLU-339.
"Somatic mutations of the mitochondrial genome in human colorectal tumours."
Polyak K., Li Y., Zhu H., Lengauer C., Willson J.K.V., Markowitz S.D., Trush M.A., Kinzler K.W., Vogelstein B.
Nat. Genet. 20:291-293(1998) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS COLORECTAL CANCER HIS-80 AND LEU-276.
"A mitochondrial cytochrome b mutation but no mutations of nuclearly encoded subunits in ubiquinol cytochrome c reductase (complex III) deficiency."
Valnot I., Kassis J., Chretien D., de Lonlay P., Parfait B., Munnich A., Kachaner J., Rustin P., Roetig A.
Hum. Genet. 104:460-466(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT HCM GLU-166, VARIANTS ILE-7; SER-8; LEU-18; ALA-194; ILE-236 AND THR-316.
"Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNA."
Andreu A.L., Hanna M.G., Reichmann H., Bruno C., Penn A.S., Tanji K., Pallotti F., Iwata S., Bonilla E., Lach B., Morgan-Hughes J., DiMauro S.
N. Engl. J. Med. 341:1037-1044(1999) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANTS MM SER-34 AND 251-GLY--LEU-258 DEL.
"A missense mutation in the mitochondrial cytochrome b gene in a revisited case with histiocytoid cardiomyopathy."
Andreu A.L., Checcarelli N., Iwata S., Shanske S., DiMauro S.
Pediatr. Res. 48:311-314(2000) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT CMIH ASP-251.
"Multisystem disorder associated with a missense mutation in the mitochondrial cytochrome b gene."
Wibrand F., Ravn K., Schwartz M., Rosenberg T., Horn N., Vissing J.
Ann. Neurol. 50:540-543(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT MULTISYSTEM DISORDER CYS-278.
"Functional characterization of novel mutations in the human cytochrome b gene."
Legros F., Chatzoglou E., Frachon P., de Baulny H.O., Laforet P., Jardel C., Godinot C., Lombes A.
Eur. J. Hum. Genet. 9:510-518(2001) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT EXERCISE INTOLERANCE PRO-151.
"Septo-optic dysplasia associated with a new mitochondrial cytochrome b mutation."
Schuelke M., Krude H., Finckh B., Mayatepek E., Janssen A., Schmelz M., Trefz F., Trijbels F., Smeitink J.
Ann. Neurol. 51:388-392(2002) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT EXERCICE INTOLERANCE PRO-35.
"Association of the mitochondrial DNA 15497G/A polymorphism with obesity in a middle-aged and elderly Japanese population."
Okura T., Koda M., Ando F., Niino N., Tanaka M., Shimokata H.
Hum. Genet. 113:432-436(2003) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT SER-251.
"Initial characterization of the human central proteome."
Burkard T.R., Planyavsky M., Kaupe I., Breitwieser F.P., Buerckstuemmer T., Bennett K.L., Superti-Furga G., Colinge J.
BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]
Cited for: VARIANT [LARGE SCALE ANALYSIS] ILE-7, IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].

+Additional computationally mapped references.

Entry informationⁱ

Entry nameⁱ

CYB_HUMAN

Accessionⁱ

Primary (citable) accession number: P00156
Secondary accession number(s): Q34786

Q9TEH4

Entry historyⁱ

Integrated into UniProtKB/Swiss-Prot:	July 21, 1986
Last sequence update:	October 3, 2012
Last modified:	January 7, 2015
This is version 168 of the entry and version 2 of the sequence. [Complete history]

Entry statusⁱ

Reviewed (UniProtKB/Swiss-Prot)

Annotation program

Chordata Protein Annotation Program

Disclaimer

Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousⁱ

Miscellaneous

Heme 1 (or BL or b562) is low-potential and absorbs at about 562 nm, and heme 2 (or BH or b566) is high-potential and absorbs at about 566 nm.By similarity

Keywords - Technical termⁱ

Complete proteome, Reference proteome

Documents

Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations
Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations
MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
SIMILARITY comments
Index of protein domains and families

External Data

Dasty 3

Similar proteinsⁱ

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:

100%	UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%	UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%	UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.

UniProtKB

Proteomes

UniRef

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UniParc

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P00156

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Cytochrome b

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<p>Provides any useful information about the protein, mostly biological knowledge.</p><p><a href='../manual/function_section' target='_top'>More...</a></p>Functioni

Sites

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:</p><p><a href='../manual/gene_ontology' target='_top'>More...</a></p>GO - Molecular functioni

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:</p><p><a href='../manual/gene_ontology' target='_top'>More...</a></p>GO - Biological processi

Enzyme and pathway databases

<p>Provides information about the protein and gene name(s) and synonym(s) and about the organism that is the source of the protein sequence.</p><p><a href='../manual/names_and_taxonomy_section' target='_top'>More...</a></p>Names & Taxonomyi

Organism-specific databases

<p>Provides information on the location and the topology of the mature protein in the cell.</p><p><a href='../manual/subcellular_location_section' target='_top'>More...</a></p>Subcellular locationi

Topology

<p>The <a href="http://www.geneontology.org/">Gene Ontology (GO)</a> project provides a set of hierarchical controlled vocabulary split into 3 categories:</p><p><a href='../manual/gene_ontology' target='_top'>More...</a></p>GO - Cellular componenti

<p>Provides information on the disease(s) and phenotype(s) associated with the deficiency of a protein.</p><p><a href='../manual/pathology_and_biotech_section' target='_top'>More...</a></p>Pathology & Biotechi

Cardiomyopathy, infantile histiocytoid (CMIH)

Leber hereditary optic neuropathy (LHON)

Organism-specific databases

<p>Describes post-translational modifications (PTMs) and/or processing events.</p><p><a href='../manual/ptm_processing_section' target='_top'>More...</a></p>PTM / Processingi

Molecule processing

Proteomic databases

PTM databases

<p>Provides information on the expression of a gene at the mRNA or protein level in cells or in tissues of multicellular organisms.</p><p><a href='../manual/expression_section' target='_top'>More...</a></p>Expressioni

Gene expression databases

Organism-specific databases

<p>Provides information on the quaternary structure of a protein and on interaction(s) with other proteins or protein complexes.</p><p><a href='../manual/interaction_section' target='_top'>More...</a></p>Interactioni

Protein-protein interaction databases

<p>Provides information on the tertiary structure of a protein.</p><p><a href='../manual/structure_section' target='_top'>More...</a></p>Structurei

3D structure databases

<p>Provides information on sequence similarities with other proteins and the domain(s) present in a protein.</p><p><a href='../manual/family_and_domains_section' target='_top'>More...</a></p>Family & Domainsi

<p>Provides information about the sequence similarity with other proteins.</p><p><a href='../manual/sequence_similarities' target='_top'>More...</a></p>Sequence similaritiesi

Phylogenomic databases

Family and domain databases

<p>Displays by default the canonical protein sequence and upon request all isoforms described in the entry. It also includes information pertinent to the sequence(s), including length and molecular weight.</p><p><a href='../manual/sequences_section' target='_top'>More...</a></p>Sequencei

Natural variant

Sequence databases

Genome annotation databases

Polymorphism databases

<p>Is used to point to information related to entries and found in data collections other than UniProtKB.</p><p><a href='../manual/cross_references_section' target='_top'>More...</a></p> Cross-referencesi

Sequence databases

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Protein-protein interaction databases

PTM databases

Polymorphism databases

Proteomic databases

Protocols and materials databases

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Organism-specific databases

Phylogenomic databases

Enzyme and pathway databases

Miscellaneous databases

Gene expression databases

Family and domain databases

<p>Contains the literature citations that are the sources of data used to annotate the entry. Each reference is numbered and contains several subsections allowing a precise description of a given citation.</p><p><a href='../manual/publications_section' target='_top'>More...</a></p>Publicationsi

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Functionⁱ

GO - Molecular functionⁱ

GO - Biological processⁱ

Names & Taxonomyⁱ

Subcellular locationⁱ

GO - Cellular componentⁱ

Pathology & Biotechⁱ

PTM / Processingⁱ

Expressionⁱ

Interactionⁱ

Structureⁱ

Family & Domainsⁱ

Sequence similaritiesⁱ

Sequenceⁱ

Cross-referencesⁱ

Publicationsⁱ

Entry informationⁱ

Miscellaneousⁱ