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UniProtKB/Swiss-Prot Q14896: Variant p.Val896Met

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

Variant position:  896
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LB/B
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 Valine (V) to Methionine (M) at position 896 (V896M, p.Val896Met).
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:  Similar physico-chemical property. Both residues are medium size and hydrophobic.
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:  May act as a phenotype modifier in cardiomyopathy patients.
Any additional useful information about the variant.

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

Sequence information

Variant position:  896
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 872 – 967 Fibronectin type-III 2

Literature citations

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: VARIANT MET-896;

Mutations in the cardiac myosin-binding protein C gene are the predominant cause of familial hypertrophic cardiomyopathy in eastern Finland.
Jaeaeskelaeinen P.; Kuusisto J.; Miettinen R.; Kaerkkaeinen P.; Kaerkkaeinen S.; Heikkinen S.; Peltola P.; Pihlajamaeki J.; Vauhkonen I.; Laakso M.;
J. Mol. Med. 80:412-422(2002)
Cited for: VARIANTS LEU-147; GLY-236; GLN-326; MET-896 AND HIS-1138;

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 CMH4 PRO-257; LYS-258; GLU-278; ALA-279; PRO-352; TRP-502; LYS-504 DEL; GLN-542; ARG-811; VAL-833; THR-1194 AND THR-1255; VARIANTS GLN-326 AND MET-896;

Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden.
Moerner S.; Richard P.; Kazzam E.; Hellman U.; Hainque B.; Schwartz K.; Waldenstroem A.;
J. Mol. Cell. Cardiol. 35:841-849(2003)
Cited for: VARIANTS CMH4 SER-237; HIS-668 AND THR-833; VARIANTS GLN-326 AND MET-896;

Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy.
Van Driest S.L.; Vasile V.C.; Ommen S.R.; Will M.L.; Tajik A.J.; Gersh B.J.; Ackerman M.J.;
J. Am. Coll. Cardiol. 44:1903-1910(2004)
Cited for: VARIANTS CMH4 ARG-5; LEU-219; ILE-256; LYS-258; HIS-458; ARG-490; GLN-495; TRP-502; GLN-542; VAL-604; ASN-605; LEU-608; CYS-733; ASN-770; ARG-792; HIS-810; LYS-811 DEL; THR-833; GLU-998; ARG-998; ILE-1113 AND THR-1131; VARIANTS MET-158; GLY-236; GLN-326; TRP-382; SER-416; ARG-507; MET-545 AND MET-896;

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 CMH4 GLU-278; ARG-490; GLY-495; GLN-502; TRP-502; ASN-605; SER-1028 AND ARG-1248; VARIANTS MET-158; GLY-236; GLN-326; MET-896 AND TRP-1002;

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.