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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O75923: Variant p.Glu1734Gly

Dysferlin
Gene: DYSF
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Variant information Variant position: help 1734
Type of variant: help LP/P [Disclaimer]
Residue change: help From Glutamate (E) to Glycine (G) at position 1734 (E1734G, p.Glu1734Gly).
Physico-chemical properties: help Change from medium size and acidic (E) to glycine (G)
BLOSUM score: help -2
Variant description: help In LGMDR2.
Other resources: help


Sequence information Variant position: help 1734
Protein sequence length: help 2080
Location on the sequence: help PVYRTDRVMFQDKEYSIEEI E AGRIPNPHLGPVEERLALHV
Residue conservation: help 
Human                         PVYRTDRVMFQDKEYSIEEIEAGRIPNPHLGPVEERLALHV

Mouse                         PVYRTDRVTFQDKDYTIEEIEAGRLPNPHLGPVEERLALHV

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



Literature citations
Symptomatic dysferlin gene mutation carriers: characterization of two cases.
Illa I.; De Luna N.; Dominguez-Perles R.; Rojas-Garcia R.; Paradas C.; Palmer J.; Marquez C.; Gallano P.; Gallardo E.;
Neurology 68:1284-1289(2007)
Cited for: VARIANTS LGMDR2 TYR-625 AND GLY-1734; VARIANT MMD1 ARG-519;
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.