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UniProtKB/Swiss-Prot P13646: Variant p.Met108Thr

Keratin, type I cytoskeletal 13
Gene: KRT13
Chromosomal location: 17q21-q23
Variant information

Variant position:  108
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 Methionine (M) to Threonine (T) at position 108 (M108T, p.Met108Thr).
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 hydrophobic (M) to medium size and polar (T)
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

Involvement in disease:  White sponge nevus 2 (WSN2) [MIM:615785]: A rare disorder characterized by the presence of soft, white, and spongy plaques in the oral mucosa. The characteristic histopathologic features are epithelial thickening, parakeratosis, and vacuolization of the suprabasal layer of oral epithelial keratinocytes. Less frequently the mucous membranes of the nose, esophagus, genitalia and rectum are involved. {ECO:0000269|PubMed:10561721, ECO:0000269|PubMed:11379896, ECO:0000269|PubMed:14600690, ECO:0000269|PubMed:7493031}. 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 WSN2.
Any additional useful information about the variant.

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



Sequence information

Variant position:  108
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  458
The length of the canonical sequence.

Location on the sequence:   GFVDFGACDGGLLTGNEKIT  M QNLNDRLASYLEKVRALEEA
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                         GFVDFGACDGGLLTGNEKITMQNLNDRLASYLEKVRALEEA

Mouse                         ---DFGGVDGGLLSGNEKITMQNLNDRLASYLDKVRALEAA

Rat                           ---DFGSVDGGLLSGNEKITMQNLNDRLASYLEKVRALEAA

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 – 458 Keratin, type I cytoskeletal 13
Domain 104 – 416 IF rod
Region 104 – 139 Coil 1A


Literature citations

Identification of two novel mutations in keratin 13 as the cause of white sponge naevus.
Rugg E.L.; Magee G.; Wilson N.; Brandrup F.; Hamburger J.; Lane E.B.;
Oral Dis. 5:321-324(1999)
Cited for: VARIANTS WSN2 THR-108 AND PRO-115;

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.