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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P00156: Variant p.Val356Met

Cytochrome b
Gene: MT-CYB
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Variant information Variant position: help 356 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] 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 Valine (V) to Methionine (M) at position 356 (V356M, p.Val356Met). 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 Similar physico-chemical property. Both residues are medium size and hydrophobic. 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
Variant description: help In LHON; secondary mutation; does not seem to directly cause the disease. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 356 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 TWIGGQPVSYPFTIIGQVAS V LYFTTILILMPTISLIENKM 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                         TWIGGQPVSYPFTIIGQVASVLYFTTILILMPTISLIENKM

Gorilla                       TWIGGQPVSYPFITIGQVASVLYFTTILFLMPITSLIENKM

                              TWIGGQPVEHPFIIIGQVASILYFTILLILMPTVSVIENNL

Rhesus macaque                TWIGSEPVVQPLTTIGQVASMMYFITILILMPLASLIENNL

Chimpanzee                    TWIGGQPVSYPFITIGQMASVLYFTTILILMPIASLIENKM

Mouse                         TWIGGQPVEHPFIIIGQLASISYFSIILILMPISGIIEDKM

Rat                           TWIGGQPVEHPFIIIGQLASISYFSIILILMPISGIVEDKM

Pig                           TWIGGQPVEHPFIIIGQLASILYFLIILVLMPITSIIENNL

Bovine                        TWIGGQPVEHPYITIGQLASVLYFLLILVLMPTAGTIENKL

Rabbit                        TWIGGQPVEHPFITIGQVASVLYFTTILILMPLASLIENKI

Goat                          TWIGGQPVEHPYIIIGQLASIMYFLIILVMMPVASTIENNL

Sheep                         TWIGGQPVEHPYIIIGQLASIMYFLIILVMMPVASIIENNL

Cat                           TWIGGQPVEHPFITIGQLASILYFSTLLILMPISGIIENRL

Horse                         TWIGGQPVEHPYVIIGQLASILYFSLILIFMPLASTIENNL

Chicken                       TWIGSQPVEHPFIIIGQMASLSYFTILLILFPTIGTLENKM

Xenopus laevis                TWIGGQPVEDPYTMIGQLASVIYFSIFIIMFPLMGWVENKL

Zebrafish                     TWIGGMPVEHPYIIIGQMASILYFSLFLVLFPITGILENKA

Caenorhabditis elegans        SWLGQCTVEDPFTILSPLFSFIYFGLAYLMLFI--FMSSKL

Drosophila                    TWIGARPVEEPYVLIGQILTVVYFLYYLV-NPLITKWWDNL

Slime mold                    GFLGSQPAAAPYLICGLYSTIAYFIYILVLFPCIYIVEKMI

Baker's yeast                 GQIGACHVEVPYVLMGQIATFIYFAYFLIIVPVISTIENVL

Fission yeast                 AWIGGSHPENVFITIGAIATIFYFSYFFILIPVYTILGNTL
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
Transmembrane 347 – 367 Helical
Helix 345 – 363



Literature citations
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; 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)
Cited for: VARIANTS LHON ASN-171 AND MET-356;
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.