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UniProtKB/Swiss-Prot P54803: Variant p.Asp248Asn

Galactocerebrosidase
Gene: GALC
Chromosomal location: 14q31
Variant information

Variant position:  248
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 Aspartate (D) to Asparagine (N) at position 248 (D248N, p.Asp248Asn).
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:  Change from medium size and acidic (D) to medium size and polar (N)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  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

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:  248
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:   NLWESISASMLLDAELFKVV  D VIGAHYPGTHSAKDAKLTGK
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                         NLWESISASMLLDAELFKVVDVIGAHYPGTHSAKDAKLTGK

                              NLWEPISASMLLDSELLKVIDVIGAHYPGTHTVKDAKLTKK

Rhesus macaque                NLWESISAAMLLDAELFKVVDVIGAHYPGTHSVKDARLTGK

Mouse                         NLWEPISSSLLLDQELWKVVDVIGAHYPGTYTVWNAKMSGK

Xenopus laevis                GDWG-IAHDVLIDPYLNEAVQVIGAHYPGTHAAQDAIQTGK

Xenopus tropicalis            NLWQPIAFHMLQDPELLRVVDVIGAHYPGTHAAQDAILTGK

Zebrafish                     GDWS-IASAMLDDPYLNDAVEVIGVHYPGTNTVKEALLTER

Caenorhabditis elegans        GFRMDDSYSRLLDKRFINEYDIIGVHYPGGRIPENVQKSGK

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


Literature citations

Identification and characterization of 15 novel GALC gene mutations causing Krabbe disease.
Tappino B.; Biancheri R.; Mort M.; Regis S.; Corsolini F.; Rossi A.; Stroppiano M.; Lualdi S.; Fiumara A.; Bembi B.; Di Rocco M.; Cooper D.N.; Filocamo M.;
Hum. Mutat. 31:E1894-E1914(2010)
Cited for: VARIANTS GLD LYS-130; ARG-318; ARG-323; THR-384; LEU-396 AND ASN-490; VARIANTS PRO-21; CYS-184; ASN-248; THR-562 AND ALA-641;

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.