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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P06280: Variant p.Glu358Ala

Alpha-galactosidase A
Gene: GLA
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Variant information Variant position: help 358
Type of variant: help LP/P [Disclaimer]
Residue change: help From Glutamate (E) to Alanine (A) at position 358 (E358A, p.Glu358Ala).
Physico-chemical properties: help Change from medium size and acidic (E) to small size and hydrophobic (A)
BLOSUM score: help -1
Variant description: help In FD.
Other resources: help


Sequence information Variant position: help 358
Protein sequence length: help 429
Location on the sequence: help EVWERPLSGLAWAVAMINRQ E IGGPRSYTIAVASLGKGVAC
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 32 – 429 Alpha-galactosidase A



Literature citations
Detection of alpha-galactosidase a mutations causing Fabry disease by denaturing high performance liquid chromatography.
Shabbeer J.; Robinson M.; Desnick R.J.;
Hum. Mutat. 25:299-305(2005)
Cited for: VARIANTS FD VAL-31; LEU-42; ARG-43; ASN-93; CYS-112; HIS-112; SER-112; SER-134; VAL-135; ASP-171; PHE-201; SER-215; GLU-234; ASP-261; TYR-264; VAL-264; GLY-276; PRO-285; PHE-300; ALA-328; VAL-328; LYS-338; ALA-358; GLU-358 DEL; ARG-404 DEL AND SER-414;
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.