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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P06280: Variant p.Pro146Ser

Alpha-galactosidase A
Gene: GLA
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Variant information Variant position: help 146
Type of variant: help LP/P [Disclaimer]
Residue change: help From Proline (P) to Serine (S) at position 146 (P146S, p.Pro146Ser).
Physico-chemical properties: help Change from medium size and hydrophobic (P) to small size and polar (S)
BLOSUM score: help -1
Variant description: help In FD; mild.
Other resources: help


Sequence information Variant position: help 146
Protein sequence length: help 429
Location on the sequence: help SKGLKLGIYADVGNKTCAGF P GSFGYYDIDAQTFADWGVDL
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 32 – 429 Alpha-galactosidase A
Glycosylation 139 – 139 N-linked (GlcNAc...) asparagine
Disulfide bond 142 – 172
Beta strand 144 – 146



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.