Sequence information
Variant position: 453 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:
PEQRGSEVHTKKTVMIKTIE
T RDGEVVSEATQQQHEVL
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 PEQRGSEVHTKKTVMIKTIET RDGEVVSEATQQQHEVL
Mouse PEQRGSEVHTKKTVMIKTIET RDGEVVSEATQQQHEVL
Rat PEQRGSEVHTKKTVMIKTIET RDGEVVSEATQQQHEVL
Pig PEQRGSEVHTKKTVMIKTIET RDGEVVSEATQQQHEVL
Bovine PEQRGSEVHTKKTVMIKTIET RDGEVVSEATQQQHEVL
Chicken PDQRGSEVHTKKTVMIKTIET RDGEVVSEATQQQHEVL
Xenopus laevis PEQRASEVHTKKTVMIKTIET RDGEVLSEASQQHQEIL
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
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;
Nebulin binding impedes mutant desmin filament assembly.
Baker L.K.; Gillis D.C.; Sharma S.; Ambrus A.; Herrmann H.; Conover G.M.;
Mol. Biol. Cell 24:1918-1932(2013)
Cited for: CHARACTERIZATION OF VARIANTS MFM1 PHE-46; ASP-245 AND ILE-453; INTERACTION WITH NEB;
Nebulette is a powerful cytolinker organizing desmin and actin in mouse hearts.
Hernandez D.A.; Bennett C.M.; Dunina-Barkovskaya L.; Wedig T.; Capetanaki Y.; Herrmann H.; Conover G.M.;
Mol. Biol. Cell 27:3869-3882(2016)
Cited for: CHARACTERIZATION OF VARIANTS MFM1 ASP-245 AND ILE-453; INTERACTION WITH NEBL;
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.