Variant position: 286 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 685 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 TGKKLWSSEDFSTLNSDMGA GCWGRILNQNYINGYMTSTIA
Rhesus macaque TGKKLWSSEDFSTLNSDTGA GCWGRILNQNYVNGYMTSTIA
Mouse SGKKLWSSEDFSTINSNVGA GCWSRILNQNYINGNMTSTIA
Xenopus laevis TGKTLWASEDYSTYNDEVGG GCWARILNQNYVNGNMTSTIS
Xenopus tropicalis TGKTLWASEDYSTYNDEVGG GCWARILNQNYVNGNMTSTIS
Zebrafish TERKLWSSEDYSTYNDDIGA GCWARILNQNYVNGKMTSTIS
Caenorhabditis elegans SGKVIWASEDYSTDNRDTGE GCMARTMNWNFINGNITGMIS
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
43 – 685 Galactocerebrosidase
274 – 274 Nucleophile
Adult onset globoid cell leukodystrophy (Krabbe disease): analysis of galactosylceramidase cDNA from four Japanese patients.
Furuya H.; Kukita Y.-J.; Nagano S.; Sakai Y.; Yamashita Y.; Fukuyama H.; Inatomi Y.; Saito Y.; Koike R.; Tsuji S.; Fukumaki Y.; Hayashi K.; Kobayashi T.;
Hum. Genet. 100:450-456(1997)
Cited for: VARIANTS GLD MET-82; ASP-286 AND SER-634; VARIANTS VAL-305 AND THR-562;
Molecular basis of late-life globoid cell leukodystrophy.
De Gasperi R.; Gama Sosa M.A.; Sartorato E.L.; Battistini S.; Raghavan S.; Kolodny E.H.;
Hum. Mutat. 14:256-262(1999)
Cited for: VARIANTS GLD ASP-286 AND ARG-553; VARIANT ALA-641; CHARACTERIZATION OF VARIANT GLD ASP-286;
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.