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UniProtKB/Swiss-Prot Q14896: Variant p.Arg820Gln

Myosin-binding protein C, cardiac-type
Gene: MYBPC3
Variant information

Variant position:  820
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 Glutamine (Q) at position 820 (R820Q, p.Arg820Gln).
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 (Q)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  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

Variant description:  In CMH4.
Any additional useful information about the variant.

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

Sequence information

Variant position:  820
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  1274
The length of the canonical sequence.

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.

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.

Chain 1 – 1274 Myosin-binding protein C, cardiac-type
Domain 774 – 870 Fibronectin type-III 1

Literature citations

Phosphorylation switches specific for the cardiac isoform of myosin binding protein-C: a modulator of cardiac contraction?
Gautel M.; Zuffardi O.; Freiburg A.; Labeit S.;
EMBO J. 14:1952-1960(1995)

Organization and sequence of human cardiac myosin binding protein C gene (MYBPC3) and identification of mutations predicted to produce truncated proteins in familial hypertrophic cardiomyopathy.
Carrier L.; Bonne G.; Bahrend E.; Yu B.; Richard P.; Niel F.; Hainque B.; Cruaud C.; Gary F.; Labeit S.; Bouhour J.-B.; Dubourg O.; Desnos M.; Hagege A.A.; Trent R.J.; Komajda M.; Fiszman M.; Schwartz K.;
Circ. Res. 80:427-434(1997)

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 CMH4 LYS-258; HIS-810; GLN-820 AND HIS-873;

A novel missense mutation in the myosin binding protein-C gene is responsible for hypertrophic cardiomyopathy with left ventricular dysfunction and dilation in elderly patients.
Konno T.; Shimizu M.; Ino H.; Matsuyama T.; Yamaguchi M.; Terai H.; Hayashi K.; Mabuchi T.; Kiyama M.; Sakata K.; Hayashi T.; Inoue M.; Kaneda T.; Mabuchi H.;
J. Am. Coll. Cardiol. 41:781-786(2003)
Cited for: VARIANT CMH4 GLN-820;

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.