UniProtKB/Swiss-Prot P12883: Variant p.Arg663His

Myosin-7
Gene: MYH7
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Variant information Variant position:

663 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 Histidine (H) at position 663 (R663H, p.Arg663His). 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 (H) 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.

Variant rs371898076 [ dbSNP | Ensembl ]

Sequence information Variant position:

663 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:

SFQTVSALHRENLNKLMTNL R STHPHFVRCIIPNETKSPGV 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                         SFQTVSALHRENLNKLMTNLRSTHPHFVRCIIPNETKSPGV

                              SFQTVSALHRENLNKLMTNLRSTHPHFVRCIIPNETKSPGV

Mouse                         SFQTVSALHRENLNKLMTNLRSTHPHFVRCIIPNETKSPGV

Rat                           SFQTVSALHRENLNKLMTNLRSTHPHFVRCIIPNETKSPGV

Pig                           SFQTVSALHRENLNKLMTNLRSTHPHFVRCIIPNETKSPGV

Bovine                        SFQTVSALHRENLNKLMTNLRSTHPHFVRCIIPNETKSPGV

Horse                         SFQTVSALHRENLNKLMTNLRSTHPHFVRCIIPNETKSPGV

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.

Type	Positions	Description
Chain	1 – 1935	Myosin-7
Domain	85 – 778	Myosin motor
Region	655 – 677	Actin-binding
Helix	647 – 663

Literature citations
Structural interpretation of the mutations in the beta-cardiac myosin that have been implicated in familial hypertrophic cardiomyopathy.
Rayment I.; Holden H.M.; Sellers J.R.; Fananapazir L.; Epstein N.D.;
Proc. Natl. Acad. Sci. U.S.A. 92:3864-3868(1995)
Cited for: VARIANTS CMH1 ILE-124; CYS-162; LYS-187; LYS-222; LEU-244; HIS-663; ASN-782 AND HIS-870; Beta-myosin heavy chain gene mutations and hypertrophic cardiomyopathy in Austrian children.
Greber-Platzer S.; Marx M.; Fleischmann C.; Suppan C.; Dobner M.; Wimmer M.;
J. Mol. Cell. Cardiol. 33:141-148(2001)
Cited for: VARIANTS CMH1 GLN-249; MET-406; CYS-453; MET-606; HIS-663 AND LYS-877; Assessment of diastolic function with Doppler tissue imaging to predict genotype in preclinical hypertrophic cardiomyopathy.
Ho C.Y.; Sweitzer N.K.; McDonough B.; Maron B.J.; Casey S.A.; Seidman J.G.; Seidman C.E.; Solomon S.D.;
Circulation 105:2992-2997(2002)
Cited for: VARIANTS CMH1 HIS-663; TRP-719; ARG-768 AND GLY-906; 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; Utility of genetic screening in hypertrophic cardiomyopathy: prevalence and significance of novel and double (homozygous and heterozygous) beta-myosin mutations.
Mohiddin S.A.; Begley D.A.; McLam E.; Cardoso J.-P.; Winkler J.B.; Sellers J.R.; Fananapazir L.;
Genet. Test. 7:21-27(2003)
Cited for: VARIANTS CMH1 GLY-143; ILE-148; GLN-207; LEU-211; GLU-351; GLN-403; SER-479; ALA-500; ARG-571; HIS-663; CYS-671; THR-736; GLY-763; ASN-782; LEU-822; GLU-882 AND VAL-908; 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; Mutations profile in Chinese patients with hypertrophic cardiomyopathy.
Song L.; Zou Y.; Wang J.; Wang Z.; Zhen Y.; Lou K.; Zhang Q.; Wang X.; Wang H.; Li J.; Hui R.;
Clin. Chim. Acta 351:209-216(2005)
Cited for: VARIANTS CMH1 VAL-26; GLN-143; ARG-425; THR-450; PHE-511; GLN-615; CYS-663; HIS-663; PRO-734; ARG-741; THR-822; GLU-823; HIS-858; LYS-924 AND LYS-930; 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; Shared genetic causes of cardiac hypertrophy in children and adults.
Morita H.; Rehm H.L.; Menesses A.; McDonough B.; Roberts A.E.; Kucherlapati R.; Towbin J.A.; Seidman J.G.; Seidman C.E.;
N. Engl. J. Med. 358:1899-1908(2008)
Cited for: VARIANTS CMH1 ASN-146; MET-606; HIS-663; GLN-719; MET-763; CYS-787; VAL-908; LYS-924 AND MET-1414;

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.