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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P06280: Variant p.Trp47Arg

Alpha-galactosidase A
Gene: GLA
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Variant information Variant position: help 47
Type of variant: help LP/P [Disclaimer]
Residue change: help From Tryptophan (W) to Arginine (R) at position 47 (W47R, p.Trp47Arg).
Physico-chemical properties: help Change from large size and aromatic (W) to large size and basic (R)
BLOSUM score: help -3
Variant description: help In FD; decreased alpha-galactosidase activity.


Sequence information Variant position: help 47
Protein sequence length: help 429
Location on the sequence: help PGARALDNGLARTPTMGWLH W ERFMCNLDCQEEPDSCISEK
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 32 – 429 Alpha-galactosidase A
Helix 47 – 50



Literature citations
A novel mutation of alpha-galactosidase A gene causes Fabry disease mimicking primary erythromelalgia in a Chinese family.
Ge W.; Wei B.; Zhu H.; Miao Z.; Zhang W.; Leng C.; Li J.; Zhang D.; Sun M.; Xu X.;
Int. J. Neurosci. 2016:1-6(2016)
Cited for: VARIANT FD ARG-47; CHARACTERIZATION OF VARIANTS FD ARG-47 AND GLY-47; CATALYTIC ACTIVITY; FUNCTION;
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.