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UniProtKB/Swiss-Prot P13645: Variant p.Gly126Ser

Keratin, type I cytoskeletal 10
Gene: KRT10
Variant information

Variant position:  126
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 Glycine (G) to Serine (S) at position 126 (G126S, p.Gly126Ser).
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 polar (S)
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:  A number of alleles are known that mainly differ in the Gly-rich region (positions 490-560).
Additional information on the polymorphism described.

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



Sequence information

Variant position:  126
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  584
The length of the canonical sequence.

Location on the sequence:   SFGGGSFGGGSFGGGGFGGG  G FGGGFGGGFGGDGGLLSGNE
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                         SFGGGSFGGGS-FGGGGFGGGGFGGG-FGGGFGGDGG-LLSGNE

                              SFGGGSFGGGS-FGGGGFSGGSFGG--YGGGYGGDGG-LLS

Mouse                         SFGGAGFGGGGSFGGGSFGGGSYGGGFGGGGFGGDGGSLLS

Rat                           SFGGG-YGGGS-FGGGSFGGGSFGGGSFGGGLGGDGGGLLS

Bovine                        SFGGG-YGGGG-FGGGSFGGGSFGGG-LGGGF-GDGG-LIS

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 – 584 Keratin, type I cytoskeletal 10
Region 1 – 145 Head
Compositional bias 17 – 575 Gly-rich


Literature citations

Genetic mutations in the K1 and K10 genes of patients with epidermolytic hyperkeratosis. Correlation between location and disease severity.
Syder A.J.; Yu Q.-C.; Paller A.S.; Giudice G.; Pearson R.; Fuchs E.;
J. Clin. Invest. 93:1533-1542(1994)
Cited for: VARIANTS EHK ARG-150; CYS-156 AND GLU-439; VARIANT SER-126;

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.