Variant position: 85 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 FDPPTFPALGTFSRYESTRS GRRMELSMGPIQANHTGTGLL
Chimpanzee FDPPTFPALGTFSRYESTRS GRRMELSMGTIQANHTGTGLL
Mouse LDPVTLPALGTFSRYESTRR GRRMELSVGAIQANRTGTGLL
Pig LDPLTLPDPGTFSRFESTRS GRRMELSLGTFQANRTSKGLL
Bovine LDPLTLPDPGTFSRFESTRS GRRMELSLGTIQANRTGTGLL
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
98 – 98 N-linked (GlcNAc...)
1 – 161 Missing. In isoform 3.
Gaucher disease: identification of three new mutations in the Korean and Chinese (Taiwanese) populations.
Kim J.-W.; Liou B.B.; Lai M.-Y.; Ponce E.; Grabowski G.A.;
Hum. Mutat. 7:214-218(1996)
Cited for: VARIANTS GD LEU-54; GLU-85 AND SER-227;
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;
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.