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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P06280: Variant p.Tyr86Cys

Alpha-galactosidase A
Gene: GLA
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Variant information Variant position: help 86
Type of variant: help LP/P [Disclaimer]
Residue change: help From Tyrosine (Y) to Cysteine (C) at position 86 (Y86C, p.Tyr86Cys).
Physico-chemical properties: help Change from large size and aromatic (Y) to medium size and polar (C)
BLOSUM score: help -2
Variant description: help In FD.


Sequence information Variant position: help 86
Protein sequence length: help 429
Location on the sequence: help EKLFMEMAELMVSEGWKDAG Y EYLCIDDCWMAPQRDSEGRL
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 32 – 429 Alpha-galactosidase A
Disulfide bond 52 – 94



Literature citations
Fabry disease: thirty-five mutations in the alpha-galactosidase A gene in patients with classic and variant phenotypes.
Eng C.M.; Ashley G.A.; Burgert T.S.; Enriquez A.L.; D'Souza M.; Desnick R.J.;
Mol. Med. 3:174-182(1997)
Cited for: VARIANTS FD VAL-31; 45-LEU-HIS-46 DELINS ARG-SER; ARG-46; CYS-86; PRO-89; THR-91; TYR-92; TYR-94; VAL-97; THR-100; LEU-113; SER-134; ARG-138; THR-143; ARG-148; VAL-163; VAL-170; TYR-202; 205-PRO--TYR-207 DEL; ASP-216; SER-263; CYS-287; SER-298 AND ARG-404 DEL;
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.