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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P19012: Variant p.Thr147Ala

Keratin, type I cytoskeletal 15
Gene: KRT15
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Variant information Variant position: help 147 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LB/B The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change: help From Threonine (T) to Alanine (A) at position 147 (T147A, p.Thr147Ala). 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: help 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: help 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

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


Sequence information Variant position: help 147 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 456 The length of the canonical sequence.
Location on the sequence: help EEANADLEVKIHDWYQKQTP T SPECDYSQYFKTIEELRDKI 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human                         EEANADLEVKIHDWYQKQTPTSPECDYSQYFKTIEELRDKI

Mouse                         EQANTELEVKIRDWYQKQSPASPDRDYSHYFKTMEEIRDKI

Rat                           EEANTELEVKIRDWYQKQSPASPDRDYSHYFKTMEEIRDKI

Sheep                         EEANADLEVKIRDWYQRQSPTSPERDYSPYFKTTDELRDKI

Sequence annotation in neighborhood: help 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 – 456 Keratin, type I cytoskeletal 15
Domain 105 – 417 IF rod
Region 141 – 159 Linker 1
Alternative sequence 30 – 194 Missing. In isoform 2.



Literature citations
Low level expression of cytokeratins 8, 18 and 19 in vascular smooth muscle cells of human umbilical cord and in cultured cells derived therefrom, with an analysis of the chromosomal locus containing the cytokeratin 19 gene.
Bader B.L.; Jahn L.; Franke W.W.;
Eur. J. Cell Biol. 47:300-319(1988)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS ALA-147 AND GLY-421; Molecular characterization and expression of the stratification-related cytokeratins 4 and 15.
Leube R.E.; Bader B.L.; Bosch F.X.; Zimbelmann R.; Achtstaetter T.; Franke W.W.;
J. Cell Biol. 106:1249-1261(1988)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); TISSUE SPECIFICITY; VARIANTS ALA-147 AND GLY-421;
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.