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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P54803: Variant p.Gly286Asp

Galactocerebrosidase
Gene: GALC
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Variant information Variant position: help 286 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 Glycine (G) to Aspartate (D) at position 286 (G286D, p.Gly286Asp). 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 glycine (G) to medium size and acidic (D) 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 KRB; significant reduction of activity. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 286 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 685 The length of the canonical sequence.
Location on the sequence: help TGKKLWSSEDFSTLNSDMGA G CWGRILNQNYINGYMTSTIA 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         TGKKLWSSEDFSTLNSDMGAGCWGRILNQNYINGYMTSTIA

                              TKKKLWSSEDFSTLNSDVGAGCLGRILNQNYVNGYMTATIA

Rhesus macaque                TGKKLWSSEDFSTLNSDTGAGCWGRILNQNYVNGYMTSTIA

Mouse                         SGKKLWSSEDFSTINSNVGAGCWSRILNQNYINGNMTSTIA

Xenopus laevis                TGKTLWASEDYSTYNDEVGGGCWARILNQNYVNGNMTSTIS

Xenopus tropicalis            TGKTLWASEDYSTYNDEVGGGCWARILNQNYVNGNMTSTIS

Zebrafish                     TERKLWSSEDYSTYNDDIGAGCWARILNQNYVNGKMTSTIS

Caenorhabditis elegans        SGKVIWASEDYSTDNRDTGEGCMARTMNWNFINGNITGMIS
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 43 – 685 Galactocerebrosidase
Active site 274 – 274 Nucleophile



Literature citations
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 KRB 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 KRB ASP-286 AND ARG-553; VARIANT ALA-641; CHARACTERIZATION OF VARIANT KRB ASP-286; Advances in the Diagnosis and Treatment of Krabbe Disease.
Wenger D.A.; Luzi P.; Rafi M.A.;
Int. J. Neonatal Screen. 7:0-0(2021)
Cited for: VARIANTS KRB ASP-111; ALA-112; ASP-286; PHE-303; TRP-396; MET-529; SER-567 AND SER-634;
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.