UniProtKB/Swiss-Prot Q14896: Variant p.Ala833Thr

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 833 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: LP/P [Disclaimer: Variants classification is intended for research purposes only, not for clinical and diagnostic use. The label disease variant is assigned according to literature reports on probable disease-association that can be based on theoretical reasons. This label must not be considered as a definitive proof for the pathogenic role of a variant.] 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 Alanine (A) to Threonine (T) at position 833 (A833T, p.Ala833Thr). 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 hydrophobic (A) to medium size and polar (T) 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
Variant description: In CMH4 and CMD1MM. Any additional useful information about the variant.
Other resources: Links to websites of interest for the variant.

• Variant rs199865688 [ dbSNP | Ensembl ]

Sequence information

Variant position: 833 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: KKSYRWMRLNFDLIQELSHE A RRMIEGVVYEMRVYAVNAIG 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	774 – 870	Fibronectin type-III 1

Literature citations

The 2373insG mutation in the MYBPC3 gene is a founder mutation, which accounts for nearly one-fourth of the HCM cases in the Netherlands.
Alders M.; Jongbloed R.; Deelen W.; van den Wijngaard A.; Doevendans P.; Ten Cate F.; Regitz-Zagrosek V.; Vosberg H.-P.; van Langen I.; Wilde A.; Dooijes D.; Mannens M.;
Eur. Heart J. 24:1848-1853(2003)
Cited for: VARIANTS CMH4 SER-161; LYS-258; ASN-605; THR-833; TRP-834 AND THR-1131; 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; Genetic and phenotypic characterization of mutations in myosin-binding protein C (MYBPC3) in 81 families with familial hypertrophic cardiomyopathy: total or partial haploinsufficiency.
Andersen P.S.; Havndrup O.; Bundgaard H.; Larsen L.A.; Vuust J.; Pedersen A.K.; Kjeldsen K.; Christiansen M.;
Eur. J. Hum. Genet. 12:673-677(2004)
Cited for: VARIANTS CMH4 ASN-228; LYS-258; LYS-813 DEL AND THR-833; 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; Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy.
Hershberger R.E.; Norton N.; Morales A.; Li D.; Siegfried J.D.; Gonzalez-Quintana J.;
Circ. Cardiovasc. Genet. 3:155-161(2010)
Cited for: VARIANTS CMD1MM ARG-490; THR-833 AND PHE-1264;