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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P06280: Variant p.Met267Ile

Alpha-galactosidase A
Gene: GLA
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Variant information Variant position: help 267
Type of variant: help LP/P [Disclaimer]
Residue change: help From Methionine (M) to Isoleucine (I) at position 267 (M267I, p.Met267Ile).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and hydrophobic.
BLOSUM score: help 1
Variant description: help In FD.
Other resources: help


Sequence information Variant position: help 267
Protein sequence length: help 429
Location on the sequence: help SFNQERIVDVAGPGGWNDPD M LVIGNFGLSWNQQVTQMALW
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 32 – 429 Alpha-galactosidase A



Literature citations
Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease.
Topaloglu A.K.; Ashley G.A.; Tong B.; Shabbeer J.; Astrin K.H.; Eng C.M.; Desnick R.J.;
Mol. Med. 5:806-811(1999)
Cited for: VARIANTS FD VAL-42; CYS-112; ARG-142; ARG-148; VAL-165; ASP-183; SER-215; CYS-235; LEU-236; HIS-244; LEU-259; ILE-267; PHE-289; GLU-321; GLU-358 DEL AND TYR-378; Fabry disease: 20 novel GLA mutations in 35 families.
Blaydon D.; Hill J.A.; Winchester B.G.;
Hum. Mutat. 18:459-459(2001)
Cited for: VARIANTS FD TYR-46; GLY-47; PRO-49; SER-94; SER-95; CYS-112; SER-113; THR-143; SER-215; ARG-258; ARG-259; ILE-267; HIS-279; HIS-280; HIS-298; TYR-313; HIS-363; ASP-377; ALA-409 AND THR-409;
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.