UniProtKB/Swiss-Prot P19544: Variant p.Gly253Ala

Wilms tumor protein
Gene: WT1
Chromosomal location: 11p13
Variant information

Variant position:  253
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
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 Glycine (G) to Alanine (A) at position 253 (G253A, p.Gly253Ala).
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 glycine (G) 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

Involvement in disease:  Wilms tumor 1 (WT1) [MIM:194070]: Embryonal malignancy of the kidney that affects approximately 1 in 10'000 infants and young children. It occurs both in sporadic and hereditary forms. {ECO:0000269|PubMed:1317572, ECO:0000269|PubMed:15150775, ECO:0000269|PubMed:9108089, ECO:0000269|PubMed:9529364}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In WT1.
Any additional useful information about the variant.



Sequence information

Variant position:  253
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  449
The length of the canonical sequence.

Location on the sequence:   LECMTWNQMNLGATLKGVAA  G SSSSVKWTEGQSNHSTGYES
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                         LECMTWNQMNLGATLKGVAAGSSSSVKWTEGQSNHSTGYES

Mouse                         LECMTWNQMNLGATLKGMAAGSSSSVKWTEGQSNHGIGYES

Rat                           LECMTWNQMNLGATLKGMAAGSSSSVKWTEGQSNHGTGYES

Pig                           LECMTWNQMNLGATLKGVAAGTSSSMKWTEGQSNHGAGYES

Xenopus tropicalis            LECMTWNQMNLGSSLK-----------------SHGTSYEN

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 1 – 449 Wilms tumor protein
Alternative sequence 250 – 266 Missing. In isoform 2, isoform 3, isoform 8 and isoform 9.


Literature citations

Correlation of germ-line mutations and two-hit inactivation of the WT1 gene with Wilms tumors of stromal-predominant histology.
Schumacher V.; Schneider S.; Figge A.; Wildhardt G.; Harms D.; Schmidt D.; Weirich A.; Ludwig R.; Royer-Pokora B.;
Proc. Natl. Acad. Sci. U.S.A. 94:3972-3977(1997)
Cited for: VARIANTS WT1 SER-181 AND ALA-253;

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.