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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P06280: Variant p.Glu341Lys

Alpha-galactosidase A
Gene: GLA
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Variant information Variant position: help 341
Type of variant: help LP/P [Disclaimer]
Residue change: help From Glutamate (E) to Lysine (K) at position 341 (E341K, p.Glu341Lys).
Physico-chemical properties: help Change from medium size and acidic (E) to large size and basic (K)
BLOSUM score: help 1
Variant description: help In FD.
Other resources: help


Sequence information Variant position: help 341
Protein sequence length: help 429
Location on the sequence: help QDPLGKQGYQLRQGDNFEVW E RPLSGLAWAVAMINRQEIGG
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 32 – 429 Alpha-galactosidase A
Beta strand 337 – 343



Literature citations
The multiple cases of Fabry disease in a Russian family caused by an E341K amino acid substitution in the alpha-galactosidase A.
Beyer E.M.; Karpova E.A.; Udalova O.V.; Ploos van Amstel J.K.; van Diggelen O.P.; Tsvetkova I.V.;
Clin. Chim. Acta 280:81-89(1999)
Cited for: VARIANT FD LYS-341;
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.