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.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human KKSYRWMRLNFDLIQELSHEA RRMIEGVVYEMRVYAVNAIG
Mouse KKSYRWMRLNFDLLRELSHEA RRMIEGVAYEMRVYAVNAVG
Chicken KKSYRWMRLNFDLLKELTYEA KRMIEGVVYEMRIYAVNSIG
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;
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.