Sequence information
Variant position: 453 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1935 The length of the canonical sequence.
Location on the sequence:
ERMFNWMVTRINATLETKQP
R QYFIGVLDIAGFEIFDFNSF
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 ERMFNWMVTRINATLETKQPR QYFIGVLDIAGFEIFDFNSF
EKMFNWMVTRINATLETKQPR QYFIGVLDIAGFEIFDFNSF
Mouse EKMFNWMVTRINATLETKQPR QYFIGVLDIAGFEIFDFNSF
Rat EKMFNWMVTRINATLETKQPR QYFIGVLDIAGFEIFDFNSF
Pig EKMFNWMVTRINTTLETKQPR QYFIGVLDIAGFEIFDFNSF
Bovine ERMFNWMVTRINATLETKQPR QYFIGVLDIAGFEIFDFNSF
Horse ERMFNWMVARINATLETKQPR QYFIGVLDIAGFEIFDFNSF
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.
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 AND MET-606;
Independent origin of identical beta cardiac myosin heavy-chain mutations in hypertrophic cardiomyopathy.
Watkins H.; Thierfelder L.; Anan R.; Jarcho J.; Matsumori A.; McKenna W.; Seidman J.G.; Seidman C.E.;
Am. J. Hum. Genet. 53:1180-1185(1993)
Cited for: VARIANTS CMH1 GLN-403; CYS-453; ARG-584 AND MET-606;
Malignant familial hypertrophic cardiomyopathy in a family with a 453Arg-->Cys mutation in the beta-myosin heavy chain gene: coexistence of sudden death and end-stage heart failure.
Ko Y.-L.; Chen J.-J.; Tang T.-K.; Cheng J.-J.; Lin S.-Y.; Liou Y.-C.; Kuan P.; Wu C.-W.; Lien W.-P.; Liew C.-C.;
Hum. Genet. 97:585-590(1996)
Cited for: VARIANT CMH1 CYS-453;
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;
Hypertrophic cardiomyopathy: two homozygous cases with 'typical' hypertrophic cardiomyopathy and three new mutations in cases with progression to dilated cardiomyopathy.
Nanni L.; Pieroni M.; Chimenti C.; Simionati B.; Zimbello R.; Maseri A.; Frustaci A.; Lanfranchi G.;
Biochem. Biophys. Res. Commun. 309:391-398(2003)
Cited for: VARIANTS CMH1 CYS-453; MET-517 AND GLU-734;
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;
Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy.
Van Driest S.L.; Jaeger M.A.; Ommen S.R.; Will M.L.; Gersh B.J.; Tajik A.J.; Ackerman M.J.;
J. Am. Coll. Cardiol. 44:602-610(2004)
Cited for: VARIANTS CMH1 HIS-115; GLN-143; MET-263; CYS-312; THR-349; VAL-385; GLN-403; MET-404; VAL-407; VAL-428; MET-440; CYS-453; THR-511; ARG-515; CYS-663; HIS-663; CYS-694; ARG-716; GLN-719; ARG-741; VAL-778; THR-797; LYS-847 DEL; CYS-858; HIS-869; GLY-894; VAL-908; LYS-921; LYS-924; LYS-931; HIS-953; SER-1057; LYS-1356; MET-1377; TRP-1420; ASN-1459; SER-1513; LYS-1768; MET-1854 AND MET-1929; VARIANTS CYS-1491 AND ASN-1919;
Denaturing high performance liquid chromatography: high throughput mutation screening in familial hypertrophic cardiomyopathy and SNP genotyping in motor neurone disease.
Yu B.; Sawyer N.A.; Caramins M.; Yuan Z.G.; Saunderson R.B.; Pamphlett R.; Richmond D.R.; Jeremy R.W.; Trent R.J.;
J. Clin. Pathol. 58:479-485(2005)
Cited for: VARIANTS CMH1 VAL-227; GLY-328; GLU-351; GLN-403; TRP-403; ILE-411; THR-435; CYS-453; HIS-453; MET-606; CYS-663; GLN-719; TRP-719; HIS-787; GLY-894; VAL-908 AND LYS-927; VARIANT CYS-1519;
Prevalence of cardiac beta-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathy.
Perrot A.; Schmidt-Traub H.; Hoffmann B.; Prager M.; Bit-Avragim N.; Rudenko R.I.; Usupbaeva D.A.; Kabaeva Z.; Imanov B.; Mirrakhimov M.M.; Dietz R.; Wycisk A.; Tendera M.; Gessner R.; Osterziel K.J.;
J. Mol. Med. 83:468-477(2005)
Cited for: VARIANTS CMH1 LEU-211; TRP-403; CYS-453; CYS-501; ARG-576; THR-736; TRP-741; GLY-901; ASN-928; LYS-1356 AND THR-1454;
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.