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UniProtKB/Swiss-Prot P12883: Variant p.Arg723Cys

Myosin-7
Gene: MYH7
Variant information

Variant position:  723
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  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:  From Arginine (R) to Cysteine (C) at position 723 (R723C, p.Arg723Cys).
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 large size and basic (R) to medium size and polar (C)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -3
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:  723
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:   RICRKGFPNRILYGDFRQRY  R ILNPAAIPEGQFIDSRKGAE
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                         RICRKGFPNRILYGDFRQRYRILNPAAIPEGQFIDSRKGAE

                              RICRKGFPNRILYGDFRQRYRILNPAAIPEGQFIDSRKGAE

Mouse                         RICRKGFPNRILYGDFRQRYRILNPAAIPEGQFIDSRKGAE

Rat                           RICRKGFPNRILYGDFRQRYRILNPAAIPEGQFIDSRKGAE

Pig                           RICRKGFPNRILYGDFRQRYRILNPAAIPEGQFIDSRKGAE

Bovine                        RICRKGFPNRILYGDFRQRYRILNPAAIPEGQFIDSRKGAE

Horse                         RICRKGFPNRILYGDFRQRYRILNPAAIPEGQFIDSRKGAE

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 85 – 778 Myosin motor
Helix 723 – 725


Literature citations

Genotype-phenotype analysis in four families with mutations in beta-myosin heavy chain gene responsible for familial hypertrophic cardiomyopathy.
Tesson F.; Richard P.; Charron P.; Mathieu B.; Cruaud C.; Carrier L.; Dubourg O.; Lautie N.; Desnos M.; Millaire A.; Isnard R.; Hagege A.A.; Bouhour J.-B.; Bennaceur M.; Hainque B.; Guicheney P.; Schwartz K.; Komajda M.;
Hum. Mutat. 12:385-392(1998)
Cited for: VARIANTS CMH1 THR-263; TRP-719; CYS-723 AND GLU-930 DEL;

Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.
Richard P.; Charron P.; Carrier L.; Ledeuil C.; Cheav T.; Pichereau C.; Benaiche A.; Isnard R.; Dubourg O.; Burban M.; Gueffet J.-P.; Millaire A.; Desnos M.; Schwartz K.; Hainque B.; Komajda M.;
Circulation 107:2227-2232(2003)
Cited for: VARIANTS CMH1 MET-39; ASN-188; HIS-204; SER-232; GLN-249; THR-263; THR-355; LEU-403; GLN-403; TRP-403; VAL-428; THR-443; CYS-453; SER-479; LYS-483; MET-606; ILE-659; SER-663; HIS-663; CYS-671; ARG-716; GLN-719; TRP-719; CYS-723; GLU-733; ARG-741; ARG-768; GLU-778; HIS-787; THR-852; GLY-869; GLU-883 DEL; GLU-930 DEL; ARG-1135; GLN-1218; MET-1377; THR-1379; TRP-1382; MET-1692 AND THR-1777;

Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling.
Ingles J.; Doolan A.; Chiu C.; Seidman J.; Seidman C.; Semsarian C.;
J. Med. Genet. 42:E59-E59(2005)
Cited for: VARIANTS CMH1 ASN-146; LEU-186; MET-606; HIS-663; ALA-698; GLN-719; CYS-723; THR-736; GLU-742 AND ASP-1057;

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.