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UniProtKB/Swiss-Prot Q14896: Variant p.Arg326Gln

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

Variant position:  326
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 Arginine (R) to Glutamine (Q) at position 326 (R326Q, p.Arg326Gln).
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

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

Sequence information

Variant position:  326
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
Modified residue 311 – 311 Phosphoserine
Helix 321 – 326

Literature citations

Development of left ventricular hypertrophy in adults in hypertrophic cardiomyopathy caused by cardiac myosin-binding protein C gene mutations.
Maron B.J.; Niimura H.; Casey S.A.; Soper M.K.; Wright G.B.; Seidman J.G.; Seidman C.E.;
J. Am. Coll. Cardiol. 38:315-321(2001)
Cited for: VARIANT CMH4 GLN-495; VARIANT GLN-326;

Novel mutations in sarcomeric protein genes in dilated cardiomyopathy.
Daehmlow S.; Erdmann J.; Knueppel T.; Gille C.; Froemmel C.; Hummel M.; Hetzer R.; Regitz-Zagrosek V.;
Biochem. Biophys. Res. Commun. 298:116-120(2002)
Cited for: VARIANT CMH4 THR-948; VARIANTS GLY-236 AND GLN-326;

Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly.
Niimura H.; Patton K.K.; McKenna W.J.; Soults J.; Maron B.J.; Seidman J.G.; Seidman C.E.;
Circulation 105:446-451(2002)
Cited for: VARIANTS CMH4 ALA-59 AND GLN-1002; VARIANT GLN-326;

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;

Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy.
Erdmann J.; Daehmlow S.; Wischke S.; Senyuva M.; Werner U.; Raible J.; Tanis N.; Dyachenko S.; Hummel M.; Hetzer R.; Regitz-Zagrosek V.;
Clin. Genet. 64:339-349(2003)
Cited for: VARIANTS CMH4 LYS-258; TRP-282; ARG-507; TRP-523; ARG-566; PRO-668; VAL-833 AND ILE-1115; VARIANTS GLY-236 AND GLN-326;

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;

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 CMH4 HIS-273; TRP-502 AND GLN-542; VARIANT GLN-326;

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.