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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P06280: Variant p.Arg342Gln

Alpha-galactosidase A
Gene: GLA
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Variant information Variant position: help 342
Type of variant: help LP/P [Disclaimer]
Residue change: help From Arginine (R) to Glutamine (Q) at position 342 (R342Q, p.Arg342Gln).
Physico-chemical properties: help Change from large size and basic (R) to medium size and polar (Q)
BLOSUM score: help 1
Variant description: help In FD; severe.
Other resources: help


Sequence information Variant position: help 342
Protein sequence length: help 429
Location on the sequence: help DPLGKQGYQLRQGDNFEVWE R PLSGLAWAVAMINRQEIGGP
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 32 – 429 Alpha-galactosidase A
Beta strand 337 – 343



Literature citations
Fabry disease: twenty-three mutations including sense and antisense CpG alterations and identification of a deletional hot-spot in the alpha-galactosidase A gene.
Eng C.M.; Niehaus D.J.; Enriquez A.L.; Burgert T.S.; Ludman M.D.; Desnick R.J.;
Hum. Mol. Genet. 3:1795-1799(1994)
Cited for: VARIANTS FD SER-52; PHE-56; LYS-59; ARG-89; LYS-100; HIS-112; PRO-131; PRO-143; VAL-144; SER-146; TYR-172; ASN-219; ASN-244; LYS-272; ASP-288 AND GLN-342;
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.