Variant position: 1693 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 2080 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 KFGARCGLPQTYCVSGPNQW RDQLRPSQLLHLFCQQHRVKA
Mouse KFGARCGLPQTYCVSGPNQW RDQLRPSQLLHLFCQQHRIKA
Bovine KFGARCGLPQTYCVSGPNQW RDQLRPSQLLHLFCQQHRVKA
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.
Type Positions Description
1 – 2080 Dysferlin
1 – 2046 Cytoplasmic
Mutation finding in patients with dysferlin deficiency and role of the dysferlin interacting proteins annexin A1 and A2 in muscular dystrophies.
Cagliani R.; Magri F.; Toscano A.; Merlini L.; Fortunato F.; Lamperti C.; Rodolico C.; Prelle A.; Sironi M.; Aguennouz M.; Ciscato P.; Uncini A.; Moggio M.; Bresolin N.; Comi G.P.;
Hum. Mutat. 26:283-283(2005)
Cited for: VARIANTS MMD1 GLU-170; LEU-374; TRP-959; TRP-1693; ASN-1837 AND GLY-1942 AND CYS-2042; VARIANTS LGMD2B ARG-621; TRP-959; GLN-1038; LYS-1335 AND CYS-2042; VARIANT SER-1678;
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.