Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P04062: Variant p.Ala495Pro

Lysosomal acid glucosylceramidase
Gene: GBA1
Feedback?
Variant information Variant position: help 495 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change: help From Alanine (A) to Proline (P) at position 495 (A495P, p.Ala495Pro). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from small size and hydrophobic (A) to medium size and hydrophobic (P) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -1 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Variant description: help In GD1; loss of glucosylceramidase activity. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 495 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 536 The length of the canonical sequence.
Location on the sequence: help LVASQKNDLDAVALMHPDGS A VVVVLNRSSKDVPLTIKDPA The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Sequence annotation in neighborhood: help The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
  • Type: the type of sequence feature.
  • Positions: endpoints of the sequence feature.
  • Description: contains additional information about the feature.
TypePositionsDescription
Chain 40 – 536 Lysosomal acid glucosylceramidase
Glycosylation 501 – 501 N-linked (GlcNAc...) asparagine
Alternative sequence 425 – 536 Missing. In isoform 3.
Mutagenesis 482 – 482 D -> E. Loss of glucosylceramidase activity.
Mutagenesis 482 – 482 D -> G. Decreased glucosylceramidase activity.
Mutagenesis 482 – 482 D -> S. Severe decrease of glucosylceramidase activity.
Mutagenesis 501 – 501 N -> D. Loss of glucosylceramidase activity.
Mutagenesis 501 – 501 N -> Q. Loss of glucosylceramidase activity.
Beta strand 495 – 501



Literature citations
Analysis of human acid beta-glucosidase by site-directed mutagenesis and heterologous expression.
Grace M.E.; Newman K.M.; Scheinker V.; Berg-Fussman A.; Grabowski G.A.;
J. Biol. Chem. 269:2283-2291(1994)
Cited for: CHARACTERIZATION OF VARIANT GD TYR-255; CHARACTERIZATION OF VARIANTS GD1 LEU-328; ILE-362; THR-403; SER-409; LEU-433; HIS-448; PRO-483; PRO-495 AND CYS-502; CHARACTERIZATION OF VARIANT GD2 ARG-454; CHARACTERIZATION OF VARIANT GD3 VAL-448; MUTAGENESIS OF ASP-482 AND ASN-501; Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease.
Neumann J.; Bras J.; Deas E.; O'Sullivan S.S.; Parkkinen L.; Lachmann R.H.; Li A.; Holton J.; Guerreiro R.; Paudel R.; Segarane B.; Singleton A.; Lees A.; Hardy J.; Houlden H.; Revesz T.; Wood N.W.;
Brain 132:1783-1794(2009)
Cited for: INVOLVEMENT IN PARKINSON DISEASE; VARIANTS GLU-46; CYS-170; GLU-232; GLN-296; SER-409; ALA-419; HIS-448; ASN-482; PRO-483; PRO-495; LEU-497 AND CYS-502; Use of a multiplex ligation-dependent probe amplification method for the detection of deletions/duplications in the GBA1 gene in Gaucher disease patients.
Basgalupp S.P.; Siebert M.; Vairo F.P.E.; Chami A.M.; Pinto L.L.C.; Carvalho G.D.S.; Schwartz I.V.D.;
Blood Cells Mol. Dis. 68:17-20(2018)
Cited for: VARIANT GD2 ARG-350; VARIANTS GD1 SER-409; SER-416; ARG-483; PRO-483 AND PRO-495;
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.