UniProtKB/Swiss-Prot P12883: Variant p.Ala797Thr

Myosin-7
Gene: MYH7
Chromosomal location: 14q12
Variant information

Variant position:  797
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants have been found in patients and disease-association is reported in literature. However, this classification is not a definitive assessment of variant pathogenicity.
  • Polymorphism: No disease-association has been reported.
  • Unclassified: Variants have been found in patients but disease-association remains unclear.

Residue change:  From Alanine (A) to Threonine (T) at position 797 (A797T, p.Ala797Thr).
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:  Change from small size and hydrophobic (A) to medium size and polar (T)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  0
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:  In CMH1.
Any additional useful information about the variant.

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



Sequence information

Variant position:  797
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  1935
The length of the canonical sequence.

Location on the sequence:   RDERLSRIITRIQAQSRGVL  A RMEYKKLLERRDSLLVIQWN
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: 
The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         RDERLSRIITRIQAQSRGVLARMEYKKLLERRDSLLVIQWN

Mouse                         RDERLSRIITRIQAQSRGVLSRMEFKKLLERRDSLLIIQWN

Rat                           RDERLSRIITRIQAQSRGVLSRMEFKKLLERRDSLLIIQWN

Pig                           RDERLSRIITRIQAQSRGVLSRMEFKKLLERRDSLLIIQWN

Bovine                        RDERLSRIITRIQAQSRGVLSRMEFKKLLERRDSLLIIQWN

Dog                           RDERLSRIITRIQAQSRGVLSRMEYKKLLERRDSLLIIQWN

Horse                         RDERLSRIITRIQAQSRGVLARMEFKKLLERRDSLLIIQWN

Sequence annotation in neighborhood:  
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
Domain 781 – 810 IQ


Literature citations

Identification of a novel Ala797Thr mutation in exon 21 of the beta-myosin heavy chain gene in hypertrophic cardiomyopathy.
Moolman J.C.; Brink P.A.; Corfield V.A.;
Hum. Mutat. 6:197-198(1995)
Cited for: VARIANT CMH1 THR-797;

The origins of hypertrophic cardiomyopathy-causing mutations in two South African subpopulations: a unique profile of both independent and founder events.
Moolman-Smook J.C.; De Lange W.J.; Bruwer E.C.D.; Brink P.A.; Corfield V.A.;
Am. J. Hum. Genet. 65:1308-1320(1999)
Cited for: VARIANTS CMH1 TRP-403; LYS-499; GLN-719 AND THR-797;

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;

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.