Home  |  Contact
Due to work on this service, it may not be fully operational on Wednesday March 20 between 1.30 pm and 2.30 pm CEST. Apologies for the inconvenience.

UniProtKB/Swiss-Prot P54803: Variant p.Thr641Ala

Galactocerebrosidase
Gene: GALC
Chromosomal location: 14q31
Variant information

Variant position:  641
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 Threonine (T) to Alanine (A) at position 641 (T641A, p.Thr641Ala).
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 polar (T) to small size and hydrophobic (A)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  0
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:  641
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:   RVEVTAKKWYTLTLTIKGHF  T SGMLNDKSLWTDIPVNFPKN
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                         RVEVTAKKWYTLTLTIKGHFTSGMLNDKSLWTDIPVNFPKN

                              RVDVTAKKWYTLTLIIKGRLSSGMLNGKTVWKNIPVSFPKN

Rhesus macaque                HVEVTAKTWYTLTLTIKGRFASGMLNDKSLWTDIPVNFPKN

Mouse                         HADVTAKRWYTLTLGIKGYFAFGMLNGTILWKNVRVKYPGH

Xenopus laevis                LAGVRARSWHTLTLHVDGTNASGLLNGSPLWKEVVTGGPLH

Xenopus tropicalis            LAGVRARSWHTLTLHIDGTNAFGLLNGNPLWKEVVTGGPLN

Zebrafish                     LSGTKAGVWYTLTLSVKGYFATGSLNGFPLWKNAAVLEPKS

Caenorhabditis elegans        RRKVEFGKFYKFSIHLLDSHLFIKFGNHHVMTSVEIPEEQL

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
Alternative sequence 638 – 685 GHFTSGMLNDKSLWTDIPVNFPKNGWAAIGTHSFEFAQFDNFLVEATR -> VAGRRKKT. In isoform 5.


Literature citations

The DNA sequence and analysis of human chromosome 14.
Heilig R.; Eckenberg R.; Petit J.-L.; Fonknechten N.; Da Silva C.; Cattolico L.; Levy M.; Barbe V.; De Berardinis V.; Ureta-Vidal A.; Pelletier E.; Vico V.; Anthouard V.; Rowen L.; Madan A.; Qin S.; Sun H.; Du H.; Pepin K.; Artiguenave F.; Robert C.; Cruaud C.; Bruels T.; Jaillon O.; Friedlander L.; Samson G.; Brottier P.; Cure S.; Segurens B.; Aniere F.; Samain S.; Crespeau H.; Abbasi N.; Aiach N.; Boscus D.; Dickhoff R.; Dors M.; Dubois I.; Friedman C.; Gouyvenoux M.; James R.; Madan A.; Mairey-Estrada B.; Mangenot S.; Martins N.; Menard M.; Oztas S.; Ratcliffe A.; Shaffer T.; Trask B.; Vacherie B.; Bellemere C.; Belser C.; Besnard-Gonnet M.; Bartol-Mavel D.; Boutard M.; Briez-Silla S.; Combette S.; Dufosse-Laurent V.; Ferron C.; Lechaplais C.; Louesse C.; Muselet D.; Magdelenat G.; Pateau E.; Petit E.; Sirvain-Trukniewicz P.; Trybou A.; Vega-Czarny N.; Bataille E.; Bluet E.; Bordelais I.; Dubois M.; Dumont C.; Guerin T.; Haffray S.; Hammadi R.; Muanga J.; Pellouin V.; Robert D.; Wunderle E.; Gauguet G.; Roy A.; Sainte-Marthe L.; Verdier J.; Verdier-Discala C.; Hillier L.W.; Fulton L.; McPherson J.; Matsuda F.; Wilson R.; Scarpelli C.; Gyapay G.; Wincker P.; Saurin W.; Quetier F.; Waterston R.; Hood L.; Weissenbach J.;
Nature 421:601-607(2003)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]; VARIANT ALA-641;

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;

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.