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UniProtKB/Swiss-Prot P12883: Variant p.Arg453Cys

Myosin-7
Gene: MYH7
Variant information

Variant position:  453
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 453 (R453C, p.Arg453Cys).
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:  453
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:   ERMFNWMVTRINATLETKQP  R QYFIGVLDIAGFEIFDFNSF
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                         ERMFNWMVTRINATLETKQPRQYFIGVLDIAGFEIFDFNSF

                              EKMFNWMVTRINATLETKQPRQYFIGVLDIAGFEIFDFNSF

Mouse                         EKMFNWMVTRINATLETKQPRQYFIGVLDIAGFEIFDFNSF

Rat                           EKMFNWMVTRINATLETKQPRQYFIGVLDIAGFEIFDFNSF

Pig                           EKMFNWMVTRINTTLETKQPRQYFIGVLDIAGFEIFDFNSF

Bovine                        ERMFNWMVTRINATLETKQPRQYFIGVLDIAGFEIFDFNSF

Horse                         ERMFNWMVARINATLETKQPRQYFIGVLDIAGFEIFDFNSF

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


Literature citations

Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy.
Watkins H.; Rosenzweig A.; Hwang D.S.; Levi T.; McKenna W.; Seidmann C.E.; Seidmann J.G.;
N. Engl. J. Med. 326:1108-1114(1992)
Cited for: VARIANTS CMH1 GLN-249; GLN-403; CYS-453 AND MET-606;

Independent origin of identical beta cardiac myosin heavy-chain mutations in hypertrophic cardiomyopathy.
Watkins H.; Thierfelder L.; Anan R.; Jarcho J.; Matsumori A.; McKenna W.; Seidman J.G.; Seidman C.E.;
Am. J. Hum. Genet. 53:1180-1185(1993)
Cited for: VARIANTS CMH1 GLN-403; CYS-453; ARG-584 AND MET-606;

Malignant familial hypertrophic cardiomyopathy in a family with a 453Arg-->Cys mutation in the beta-myosin heavy chain gene: coexistence of sudden death and end-stage heart failure.
Ko Y.-L.; Chen J.-J.; Tang T.-K.; Cheng J.-J.; Lin S.-Y.; Liou Y.-C.; Kuan P.; Wu C.-W.; Lien W.-P.; Liew C.-C.;
Hum. Genet. 97:585-590(1996)
Cited for: VARIANT CMH1 CYS-453;

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;

Hypertrophic cardiomyopathy: two homozygous cases with 'typical' hypertrophic cardiomyopathy and three new mutations in cases with progression to dilated cardiomyopathy.
Nanni L.; Pieroni M.; Chimenti C.; Simionati B.; Zimbello R.; Maseri A.; Frustaci A.; Lanfranchi G.;
Biochem. Biophys. Res. Commun. 309:391-398(2003)
Cited for: VARIANTS CMH1 CYS-453; MET-517 AND GLU-734;

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;

Mutations of the beta myosin heavy chain gene in hypertrophic cardiomyopathy: critical functional sites determine prognosis.
Woo A.; Rakowski H.; Liew J.C.; Zhao M.-S.; Liew C.-C.; Parker T.G.; Zeller M.; Wigle E.D.; Sole M.J.;
Heart 89:1179-1185(2003)
Cited for: VARIANTS CMH1 THR-196; LEU-211; GLN-249; GLN-403; LEU-404; ILE-411; CYS-453; ARG-716; CYS-870; VAL-908 AND LYS-930;

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;

Denaturing high performance liquid chromatography: high throughput mutation screening in familial hypertrophic cardiomyopathy and SNP genotyping in motor neurone disease.
Yu B.; Sawyer N.A.; Caramins M.; Yuan Z.G.; Saunderson R.B.; Pamphlett R.; Richmond D.R.; Jeremy R.W.; Trent R.J.;
J. Clin. Pathol. 58:479-485(2005)
Cited for: VARIANTS CMH1 VAL-227; GLY-328; GLU-351; GLN-403; TRP-403; ILE-411; THR-435; CYS-453; HIS-453; MET-606; CYS-663; GLN-719; TRP-719; HIS-787; GLY-894; VAL-908 AND LYS-927; VARIANT CYS-1519;

Prevalence of cardiac beta-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathy.
Perrot A.; Schmidt-Traub H.; Hoffmann B.; Prager M.; Bit-Avragim N.; Rudenko R.I.; Usupbaeva D.A.; Kabaeva Z.; Imanov B.; Mirrakhimov M.M.; Dietz R.; Wycisk A.; Tendera M.; Gessner R.; Osterziel K.J.;
J. Mol. Med. 83:468-477(2005)
Cited for: VARIANTS CMH1 LEU-211; TRP-403; CYS-453; CYS-501; ARG-576; THR-736; TRP-741; GLY-901; ASN-928; LYS-1356 AND THR-1454;

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.