Variant position: 87 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 PPTFPALGTFSRYESTRSGR RMELSMGPIQANHTGTGLLLT
Chimpanzee PPTFPALGTFSRYESTRSGR RMELSMGTIQANHTGTGLLLT
Mouse PVTLPALGTFSRYESTRRGR RMELSVGAIQANRTGTGLLLT
Pig PLTLPDPGTFSRFESTRSGR RMELSLGTFQANRTSKGLLLT
Bovine PLTLPDPGTFSRFESTRSGR RMELSLGTIQANRTGTGLLLT
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 Lysosomal acid glucosylceramidase
98 – 98 N-linked (GlcNAc...) asparagine
1 – 161 Missing. In isoform 3.
1 – 87 Missing. In isoform 4.
Identification of two novel and four uncommon missense mutations among Chinese Gaucher disease patients.
Choy F.Y.M.; Humphries M.L.; Shi H.;
Am. J. Med. Genet. 71:172-178(1997)
Cited for: VARIANTS GD VAL-76; GLU-85; TRP-87; TRP-159; SER-227; ILE-252 AND PRO-483;
Identification and expression of acid beta-glucosidase mutations causing severe type 1 and neurologic type 2 Gaucher disease in non-Jewish patients.
Grace M.E.; Desnick R.J.; Pastores G.M.;
J. Clin. Invest. 99:2530-2537(1997)
Cited for: VARIANTS GD TRP-87; GLU-234; ARG-241; ILE-252; ASN-310; LEU-391 AND SER-409;
Analysis and classification of 304 mutant alleles in patients with type 1 and type 3 Gaucher disease.
Koprivica V.; Stone D.L.; Park J.K.; Callahan M.; Frisch A.; Cohen I.J.; Tayebi N.; Sidransky E.;
Am. J. Hum. Genet. 66:1777-1786(2000)
Cited for: VARIANTS GD TRP-87; ASN-118; THR-129; ASP-156; GLN-159; TRP-159; LEU-170; ILE-173; CYS-209; PRO-209; SER-227; THR-229; PRO-235; ARG-241; ILE-252; GLN-296; CYS-324; THR-380; MET-408; SER-409; SER-416; LEU-433; TYR-438; HIS-448; PRO-483 AND CYS-502; VARIANT LYS-365; VARIANT GD2 GLN-159;
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.