Variant position: 490 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 536 The length of the canonical sequence.
Location on the sequence:
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.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human SQRVGLVASQKNDLDAVALM HPDGSAVVVVLNRSSKDVPLT
Chimpanzee SQRVGLVASQKNDLDAVALM HPDGSAVVVVLNRSSKDVPLT
Mouse SQRVALVASESTDLETVALL RPDGSAVVVVLNRSSEDVPLT
Pig SQRVGLAASEKNNLDTVALL RPDGSAVVVVLNRSSKDVPLT
Bovine SQRVGLVASKKSDLDTVALL RPDGSAVAVVLNRSSKDVPLT
Sequence annotation in neighborhood: 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.
Type Positions Description
40 – 536 Glucosylceramidase
501 – 501 N-linked (GlcNAc...)
425 – 536 Missing. In isoform 3.
Analysis of the glucocerebrosidase gene and mutation profile in 144 Italian Gaucher patients.
Filocamo M.; Mazzotti R.; Stroppiano M.; Seri M.; Giona F.; Parenti G.; Regis S.; Corsolini F.; Zoboli S.; Gatti R.;
Hum. Mutat. 20:234-235(2002)
Cited for: VARIANTS GD THR-198; ARG-241; ARG-270; ILE-400 AND ARG-490;
Identification and functional characterization of five novel mutant alleles in 58 Italian patients with Gaucher disease type 1.
Miocic S.; Filocamo M.; Dominissini S.; Montalvo A.L.; Vlahovicek K.; Deganuto M.; Mazzotti R.; Cariati R.; Bembi B.; Pittis M.G.;
Hum. Mutat. 25:100-100(2005)
Cited for: VARIANTS GD1 ASN-63; SER-158; TRP-159; CYS-170; LEU-221; GLU-230; ARG-241; GLN-294; CYS-324; SER-409; ASN-438; LEU-440; HIS-448; CYS-457; ASP-460; PRO-483 AND ARG-490; CHARACTERIZATION OF VARIANTS GD1 ASN-63; SER-158; LEU-221; GLU-230 AND ASP-460;
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.