Sequence information
Variant position: 406 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:
REYQDLLNVKMALDVEIATY
R KLLEGEESRINLPIQTYSAL
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 REYQDLLNVKMALDVEIATYR KLLEGEESRINLPI-QTY-SAL
Mouse REYQDLLNVKMALDVEIATYR KLLEGEESRINLPI-QTF-S
Rat REYQDLLNVKMALDVEIATYR KLLEGEESRINLPI-QTF-S
Pig REYQDLLNVKMALDVEIATYR KLLEGEESRINLPI-QTF-S
Bovine REYQDLLNVKMALDVEIATYR KLLEGEESRINLPI-QTF-S
Chicken REYQDLLNVKMALDVEIATYR KLLEGEENRISIPMHQTFAS
Xenopus laevis REYQDLLNVKMALDMEIATYR KLLEGEESRITLPI-QTF-S
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
Sporadic cardiac and skeletal myopathy caused by a de novo desmin mutation.
Park K.-Y.; Dalakas M.C.; Semino-Mora C.; Lee H.-S.; Litvak S.; Takeda K.; Ferrans V.J.; Goldfarb L.G.;
Clin. Genet. 57:423-429(2000)
Cited for: VARIANT MFM1 TRP-406;
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;
Desmin accumulation restrictive cardiomyopathy and atrioventricular block associated with desmin gene defects.
Arbustini E.; Pasotti M.; Pilotto A.; Pellegrini C.; Grasso M.; Previtali S.; Repetto A.; Bellini O.; Azan G.; Scaffino M.; Campana C.; Piccolo G.; Vigano M.; Tavazzi L.;
Eur. J. Heart Fail. 8:477-483(2006)
Cited for: VARIANTS MFM1 CYS-16; TRP-406 AND ILE-453;
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.