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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P00156: Variant p.Thr7Ile

Cytochrome b
Gene: MT-CYB
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Variant information Variant position: help 7 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LB/B The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change: help From Threonine (T) to Isoleucine (I) at position 7 (T7I, p.Thr7Ile). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from medium size and polar (T) to medium size and hydrophobic (I) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -1 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 7 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 380 The length of the canonical sequence.
Location on the sequence: help MTPMRK T NPLMKLINHSFIDLPTPSNI The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: help The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human                         MTPMRKTNPLMKLINHSFIDLPTPSNI

Gorilla                       MTPMRKTNPLAKLINHSFIDLPTPSNI

                              MTNIRKTHPLAKIVNNSFIDLPAPSNI

Rhesus macaque                MTPMRKSNPILKMINRSFIDLPAPPNL

Chimpanzee                    MTPTRKINPLMKLINHSFIDLPTPSNI

Mouse                         MTNMRKTHPLFKIINHSFIDLPAPSNI

Rat                           MTNIRKSHPLFKIINHSFIDLPAPSNI

Pig                           MTNIRKSHPLMKIINNAFIDLPAPSNI

Bovine                        MTNIRKSHPLMKIVNNAFIDLPAPSNI

Rabbit                        MTNIRKTHPLLKIVNHSLIDLPAPSNI

Goat                          MTNIRKTHPLMKIVNNAFIDLPTPSNI

Sheep                         MINIRKTHPLMKIVNNAFIDLPAPSNI

Cat                           MTNIRKSHPLIKIINHSFIDLPAPSNI

Horse                         MTNIRKSHPLIKIINHSFIDLPAPSNI

Chicken                       APNIRKSHPLLKMINNSLIDLPAPSNI

Xenopus laevis                APNIRKSHPLIKIINNSFIDLPTPSNI

Zebrafish                     MTSLRKTHPVLKIANDALVDLPTPLNI

Caenorhabditis elegans        ---MKINNSLLNFVNGMLVTLPSSKTL

Drosophila                    NKPLRNSHPLFKIANNALVDLPAPINI

Slime mold                    -MRLVKKNVVINGIYEAGVRYPEPANI

Baker's yeast                 -MAFRKSNVYLSLVNSYIIDSPQPSSI

Fission yeast                 -MKILKSNPFLALANNYMIDAPEPSNI

Sequence annotation in neighborhood: help The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
  • Type: the type of sequence feature.
  • Positions: endpoints of the sequence feature.
  • Description: contains additional information about the feature.
TypePositionsDescription
Chain 1 – 380 Cytochrome b
Helix 4 – 7



Literature citations
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)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS ILE-7 AND HIS-255; 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)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS ILE-7; THR-191; ALA-194 AND THR-229; Mitochondrial genome variation and the origin of modern humans.
Ingman M.; Kaessmann H.; Paeaebo S.; Gyllensten U.;
Nature 408:708-713(2000)
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)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-378; VARIANTS ILE-7; SER-8; LEU-18; THR-122; VAL-164; 189-ILE-ALA-190 DELINS VAL-THR; 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)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-378; VARIANTS ILE-7; THR-39; VAL-78; THR-191; ALA-194 AND ASP-260; 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)
Cited for: VARIANTS ILE-7 AND PRO-87; 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)
Cited for: VARIANT HCM GLU-166; VARIANTS ILE-7; SER-8; LEU-18; ALA-194; ILE-236 AND THR-316; 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)
Cited for: VARIANT [LARGE SCALE ANALYSIS] ILE-7; IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS];
Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.