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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P12883: Variant p.Ser1491Cys

Myosin-7
Gene: MYH7
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Variant information Variant position: help 1491 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 Serine (S) to Cysteine (C) at position 1491 (S1491C, p.Ser1491Cys). 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 small size and polar (S) to medium size and polar (C) 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 1491 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1935 The length of the canonical sequence.
Location on the sequence: help QKEARSLSTELFKLKNAYEE S LEHLETFKRENKNLQEEISD 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                         QKEARSLSTELFKLKNAYEESLEHLETFKRENKNLQEEISD

                              QKEARSLSTELFKLKNAYEESLEHLETFKRENKNLQEEISD

Mouse                         QKEARSLSTELFKLKNAYEESLEHLETFKRENKNLQEEISD

Rat                           QKEARSLSTELFKLKNAYEESLEHLETFKRENKNLQEEISD

Pig                           QKEARSLSTELFKLKNAYEESLEHLETFKRENKNLQEEISD

Bovine                        QKEARSLSTELFKLKNAYEESLEHLETFKRENKNLQEEISD

Horse                         QKEARSLSTELFKLKNAYEESLEHLETFKRENKNLQEEISD

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 – 1935 Myosin-7
Coiled coil 839 – 1935
Modified residue 1510 – 1510 Phosphoserine



Literature citations
Mutations of the light meromyosin domain of the beta-myosin heavy chain rod in hypertrophic cardiomyopathy.
Blair E.; Redwood C.; de Jesus Oliveira M.; Moolman-Smook J.C.; Brink P.; Corfield V.A.; Oestman-Smith I.; Watkins H.;
Circ. Res. 90:263-269(2002)
Cited for: VARIANTS CMH1 THR-1379 AND GLY-1776; VARIANT CYS-1491; Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy.
Van Driest S.L.; Jaeger M.A.; Ommen S.R.; Will M.L.; Gersh B.J.; Tajik A.J.; Ackerman M.J.;
J. Am. Coll. Cardiol. 44:602-610(2004)
Cited for: VARIANTS CMH1 HIS-115; GLN-143; MET-263; CYS-312; THR-349; VAL-385; GLN-403; MET-404; VAL-407; VAL-428; MET-440; CYS-453; THR-511; ARG-515; CYS-663; HIS-663; CYS-694; ARG-716; GLN-719; ARG-741; VAL-778; THR-797; LYS-847 DEL; CYS-858; HIS-869; GLY-894; VAL-908; LYS-921; LYS-924; LYS-931; HIS-953; SER-1057; LYS-1356; MET-1377; TRP-1420; ASN-1459; SER-1513; LYS-1768; MET-1854 AND MET-1929; VARIANTS CYS-1491 AND ASN-1919; Mutation screening in dilated cardiomyopathy: prominent role of the beta myosin heavy chain gene.
Villard E.; Duboscq-Bidot L.; Charron P.; Benaiche A.; Conraads V.; Sylvius N.; Komajda M.;
Eur. Heart J. 26:794-803(2005)
Cited for: VARIANTS CMD1S THR-201; ASN-412; VAL-550; ASN-1019; SER-1193; LYS-1426 AND CYS-1634; VARIANT CYS-1491; One third of Danish hypertrophic cardiomyopathy patients with MYH7 mutations have mutations in MYH7 rod region.
Hougs L.; Havndrup O.; Bundgaard H.; Koeber L.; Vuust J.; Larsen L.A.; Christiansen M.; Andersen P.S.;
Eur. J. Hum. Genet. 13:161-165(2005)
Cited for: VARIANTS CMH1 LYS-1327; TRP-1712 AND LYS-1753; VARIANTS CYS-1475 AND CYS-1491;
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.