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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O75923: Variant p.Gly621Arg

Dysferlin
Gene: DYSF
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Variant information Variant position: help 621
Type of variant: help LP/P [Disclaimer]
Residue change: help From Glycine (G) to Arginine (R) at position 621 (G621R, p.Gly621Arg).
Physico-chemical properties: help Change from glycine (G) to large size and basic (R)
BLOSUM score: help -2
Variant description: help In LGMDR2.
Other resources: help


Sequence information Variant position: help 621
Protein sequence length: help 2080
Location on the sequence: help ATMLQDVDDAIQFEVSIGNY G NKFDMTCLPLASTTQYSRAV
Residue conservation: help 
Human                         ATMLQDVDDAIQFEVSIGNYGNKFDMTCLPLASTTQYSRAV

Mouse                         ATMLQDVDDAIQFEVSIGNYGNKFDTTCLPLASTTQYSRAV

Bovine                        ATMLQDVDDAVQFEVSIGNYGNKFDTTCLPLASTTQYSRAV
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 2080 Dysferlin
Topological domain 1 – 2046 Cytoplasmic



Literature citations
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 TRP-959; TRP-1693; ASN-1837 AND GLY-1942 AND CYS-2042; VARIANTS LGMDR2 ARG-621; TRP-959; GLN-1038; LYS-1335 AND CYS-2042; VARIANTS GLU-170; LEU-374 AND SER-1678;
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.