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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P12883: Variant p.Arg249Gln

Myosin-7
Gene: MYH7
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Variant information Variant position: help 249 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] 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: help From Arginine (R) to Glutamine (Q) at position 249 (R249Q, p.Arg249Gln). 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: help 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: help 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: help In CMH1. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 249 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1935 The length of the canonical sequence.
Location on the sequence: help AFGNAKTVRNDNSSRFGKFI R IHFGATGKLASADIETYLLE 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         AFGNAKTVRNDNSSRFGKFIRIHFGATGKLASADIETYLLE

                              AFGNAKTVRNDNSSRFGKFIRIHFGATGKLASADIETYLLE

Mouse                         AFGNAKTVRNDNSSRFGKFIRIHFGATGKLASADIETYLLE

Rat                           AFGNAKTVRNDNSSRFGKFIRIHFGATGKLASADIETYLLE

Pig                           AFGNAKTVRNDNSSRFGKFIRIHFGATGKLASADIETYLLE

Bovine                        AFGNAKTVRNDNSSRFGKFIRIHFGATGKLASADIETYLLE

Horse                         AFGNAKTVRNDNSSRFGKFIRIHFGATGKLASADIETYLLE
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 1 – 1935 Myosin-7
Domain 85 – 778 Myosin motor
Beta strand 244 – 252



Literature citations
Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy.
Watkins H.; Rosenzweig A.; Hwang D.S.; Levi T.; McKenna W.; Seidmann C.E.; Seidmann J.G.;
N. Engl. J. Med. 326:1108-1114(1992)
Cited for: VARIANTS CMH1 GLN-249; GLN-403; CYS-453; MET-606 AND LYS-949; Coexistence of mitochondrial DNA and beta myosin heavy chain mutations in hypertrophic cardiomyopathy with late congestive heart failure.
Arbustini E.; Fasani R.; Morbini P.; Diegoli M.; Grasso M.; Dal Bello B.; Marangoni E.; Banfi P.; Banchieri N.; Bellini O.; Comi G.; Narula J.; Campana C.; Gavazzi A.; Danesino C.; Vigano M.;
Heart 80:548-558(1998)
Cited for: VARIANTS CMH1 GLN-249 AND GLU-450; Beta-myosin heavy chain gene mutations and hypertrophic cardiomyopathy in Austrian children.
Greber-Platzer S.; Marx M.; Fleischmann C.; Suppan C.; Dobner M.; Wimmer M.;
J. Mol. Cell. Cardiol. 33:141-148(2001)
Cited for: VARIANTS CMH1 GLN-249; MET-406; CYS-453; MET-606; HIS-663 AND LYS-877; Low-density DNA microarrays are versatile tools to screen for known mutations in hypertrophic cardiomyopathy.
Waldmueller S.; Freund P.; Mauch S.; Toder R.; Vosberg H.-P.;
Hum. Mutat. 19:560-569(2002)
Cited for: VARIANTS CMH1 GLN-249; THR-349; GLN-403; ARG-595; MET-606; GLN-719; TRP-719; GLU-927 DEL AND LYS-1555; 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 CMH1 MET-39; ASN-188; HIS-204; SER-232; GLN-249; THR-263; THR-355; LEU-403; GLN-403; TRP-403; VAL-428; THR-443; CYS-453; SER-479; LYS-483; MET-606; ILE-659; SER-663; HIS-663; CYS-671; ARG-716; GLN-719; TRP-719; CYS-723; GLU-733; ARG-741; ARG-768; GLU-778; HIS-787; THR-852; GLY-869; GLU-883 DEL; GLU-930 DEL; ARG-1135; GLN-1218; MET-1377; THR-1379; TRP-1382; MET-1692 AND THR-1777; Mutations of the beta myosin heavy chain gene in hypertrophic cardiomyopathy: critical functional sites determine prognosis.
Woo A.; Rakowski H.; Liew J.C.; Zhao M.-S.; Liew C.-C.; Parker T.G.; Zeller M.; Wigle E.D.; Sole M.J.;
Heart 89:1179-1185(2003)
Cited for: VARIANTS CMH1 THR-196; LEU-211; GLN-249; GLN-403; LEU-404; ILE-411; CYS-453; ARG-716; CYS-870; VAL-908 AND LYS-930;
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.