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UniProtKB/Swiss-Prot P54803: Variant p.Ile305Val

Galactocerebrosidase
Gene: GALC
Chromosomal location: 14q31
Variant information

Variant position:  305
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Polymorphism
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Isoleucine (I) to Valine (V) at position 305 (I305V, p.Ile305Val).
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:  Similar physico-chemical property. Both residues are medium size and hydrophobic.
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  3
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

Polymorphism:  Polymorphic amino-acid changes are responsible for the wide range of catalytic activities found in the general population.
Additional information on the polymorphism described.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  305
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:   AGCWGRILNQNYINGYMTST  I AWNLVASYYEQLPYGRCGLM
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                         AGCWGRILNQNYINGYMTSTIAWNLVASYYEQLPYGRCGLM

                              AGCLGRILNQNYVNGYMTATIAWNLVASYYEQLPYGRCGLM

Rhesus macaque                AGCWGRILNQNYVNGYMTSTIAWNLVASYYEQLPYGRCGLM

Mouse                         AGCWSRILNQNYINGNMTSTIAWNLVASYYEELPYGRSGLM

Xenopus laevis                GGCWARILNQNYVNGNMTSTISWNMVASYYEQLPFGLEGLM

Xenopus tropicalis            GGCWARILNQNYVNGNMTSTISWNMVASYYEQLPFGLEGLM

Zebrafish                     AGCWARILNQNYVNGKMTSTISWNVIASYYENLSFGRDGLM

Caenorhabditis elegans        EGCMARTMNWNFINGNITGMISWHLMSAFYPQLPWYRCGLA

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.

TypePositionsDescription
Chain 43 – 685 Galactocerebrosidase
Disulfide bond 287 – 394


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 GLD MET-82; ASP-286 AND SER-634; VARIANTS VAL-305 AND THR-562;

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.