UniProtKB/Swiss-Prot Q14896: Variant p.Ser236Gly

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 236 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 Serine (S) to Glycine (G) at position 236 (S236G, p.Ser236Gly). 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 small size and polar (S) to glycine (G) 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
Other resources: Links to websites of interest for the variant.

• Variant rs3729989 [ dbSNP | Ensembl ]

Sequence information

Variant position: 236 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1274 The length of the canonical sequence.
Location on the sequence: ASKVYLFELHITDAQPAFTG S YRCEVSTKDKFDCSNFNLTV 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.

Type	Positions	Description
Chain	1 – 1274	Myosin-binding protein C, cardiac-type
Domain	153 – 256	Ig-like C2-type 1
Binding site	223 – 223
Binding site	225 – 225
Beta strand	235 – 242

Literature citations

Submission
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS MET-158; ILE-189; GLY-236; GLN-281; TRP-382; VAL-383; THR-522; VAL-833; GLU-998 AND CYS-1048; 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; 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; 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; 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; Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy.
Hayashi T.; Arimura T.; Itoh-Satoh M.; Ueda K.; Hohda S.; Inagaki N.; Takahashi M.; Hori H.; Yasunami M.; Nishi H.; Koga Y.; Nakamura H.; Matsuzaki M.; Choi B.Y.; Bae S.W.; You C.W.; Han K.H.; Park J.E.; Knoell R.; Hoshijima M.; Chien K.R.; Kimura A.;
J. Am. Coll. Cardiol. 44:2192-2201(2004)
Cited for: VARIANT GLY-236; Hypertrophic cardiomyopathy linked to homozygosity for a new mutation in the myosin-binding protein C gene (A627V) suggests a dosage effect.
Garcia-Castro M.; Reguero J.R.; Alvarez V.; Batalla A.; Soto M.I.; Albaladejo V.; Coto E.;
Int. J. Cardiol. 102:501-507(2005)
Cited for: VARIANT GLY-236; VARIANTS CMH4 ASP-342; VAL-627 AND MET-771; Ubiquitin-proteasome system impairment caused by a missense cardiac myosin-binding protein C mutation and associated with cardiac dysfunction in hypertrophic cardiomyopathy.
Bahrudin U.; Morisaki H.; Morisaki T.; Ninomiya H.; Higaki K.; Nanba E.; Igawa O.; Takashima S.; Mizuta E.; Miake J.; Yamamoto Y.; Shirayoshi Y.; Kitakaze M.; Carrier L.; Hisatome I.;
J. Mol. Biol. 384:896-907(2008)
Cited for: VARIANTS CMH4 LYS-334; LYS-814 DEL; GLU-998 AND MET-1046; CHARACTERIZATION OF VARIANTS CMH4 LYS-334; LYS-814 DEL; GLU-998 AND MET-1046; VARIANT GLY-236; UBIQUITINATION; 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;