Variant position: 451 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 470 The length of the canonical sequence.
Location on the sequence:
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 TSPEQRGSEVHTKKTVMIKT IETRDGEVVSEATQQQHEVL
Mouse TSPEQRGSEVHTKKTVMIKT IETRDGEVVSEATQQQHEVL
Rat TSPEQRGSEVHTKKTVMIKT IETRDGEVVSEATQQQHEVL
Pig TSPEQRGSEVHTKKTVMIKT IETRDGEVVSEATQQQHEVL
Bovine TSPEQRGSEVHTKKTVMIKT IETRDGEVVSEATQQQHEVL
Chicken TSPDQRGSEVHTKKTVMIKT IETRDGEVVSEATQQQHEVL
Xenopus laevis TSPEQRASEVHTKKTVMIKT IETRDGEVLSEASQQHQEIL
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.
Desmin mutation responsible for idiopathic dilated cardiomyopathy.
Li D.; Tapscoft T.; Gonzalez O.; Burch P.E.; Quinones M.A.; Zoghbi W.A.; Hill R.; Bachinski L.L.; Mann D.L.; Roberts R.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT CMD1I MET-451; INVOLVEMENT IN CMD1I;
Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene.
Dalakas M.C.; Park K.-Y.; Semino-Mora C.; Lee H.S.; Sivakumar K.; Goldfarb L.G.;
N. Engl. J. Med. 342:770-780(2000)
Cited for: VARIANTS MFM1 PRO-337; ASP-342; PRO-360; ILE-393; TRP-406 AND MET-451; CHARACTERIZATION OF VARIANTS MFM1 PRO-337; ASP-342; PRO-360; ILE-393; TRP-406 AND MET-451;
Conspicuous involvement of desmin tail mutations in diverse cardiac and skeletal myopathies.
Baer H.; Goudeau B.; Waelde S.; Casteras-Simon M.; Muecke N.; Shatunov A.; Goldberg Y.P.; Clarke C.; Holton J.L.; Eymard B.; Katus H.A.; Fardeau M.; Goldfarb L.; Vicart P.; Herrmann H.;
Hum. Mutat. 28:374-386(2007)
Cited for: VARIANTS MFM1 ILE-442; TRP-454 AND ILE-460; CHARACTERIZATION OF VARIANTS MFM1 ILE-442; MET-451; TRP-454 AND ILE-460;
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.