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UniProtKB/Swiss-Prot P13645: Variant p.His487Tyr

Keratin, type I cytoskeletal 10
Gene: KRT10
Variant information

Variant position:  487
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 Histidine (H) to Tyrosine (Y) at position 487 (H487Y, p.His487Tyr).
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 (H) to large size and aromatic (Y)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  2
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:  487
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:   GSFGGGYGGGSSGGGSSGGG  H GGGHGGSSGGGYGGGSSGGG
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                         GSFGGGYGGGSSGGGSSGGGHGGGHGGSSGGGYGGGS-SGGG

                              ------YGGGRG-GGSSGGGYGGSSGGGYGGSSGGGG-YGG

Mouse                         GSGGGSYGGSSG-GGSYGGSSGG--GGSYGGSSGGGGSYGG

Rat                           ------YVGNLQ--------------------------ITL

Bovine                        ------YGGGRGYGGSSGGG-----GGGYGGGSSSGG-YGG

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 457 – 584 Tail
Compositional bias 17 – 575 Gly-rich
Compositional bias 477 – 579 Ser-rich


Literature citations

The complete sequence of the human intermediate filament chain keratin 10. Subdomainal divisions and model for folding of end domain sequences.
Zhou X.M.; Idler W.W.; Steven A.C.; Roop D.R.; Steinert P.M.;
J. Biol. Chem. 263:15584-15589(1988)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANTS SER-101 AND TYR-487;

Identification of an orthologous mammalian cytokeratin gene. High degree of intron sequence conservation during evolution of human cytokeratin 10.
Rieger M.; Franke W.W.;
J. Mol. Biol. 204:841-856(1988)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT TYR-487;

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANTS SER-101 AND TYR-487;

Sequence of a cDNA encoding human keratin No 10 selected according to structural homologies of keratins and their tissue-specific expression.
Darmon M.Y.; Semat A.; Darmon M.C.; Vasseur M.;
Mol. Biol. Rep. 12:277-283(1987)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 130-584; VARIANT TYR-487;

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.