Variant position: 179 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 590 The length of the canonical sequence.
Location on the sequence:
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 PSIQRVRTEEREQIKTLNNK FASFIDKVRFLEQQNKVLDTK
Chimpanzee PSIQRVRTEEREQIKTLNNK FASFIDKVRFLEQQNKVLDTK
Mouse PTIQRVRTEEREQIKTLNNK FASFIDKVRFLEQQNKVLDTK
Rat PTIQRVRTEEREQIKTLNNK FASFIDKVRFLEQQNKVLDTK
Bovine PTIQRVRTEEREQIKTLNNK FASFIDKVRFLEQQNKVLDTK
Xenopus laevis PTIQTVRQEEREQIKTLNNK FASFIDKVRFLEQQNRVLETK
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.
Primers for exon-specific amplification of the KRT5 gene: identification of novel and recurrent mutations in epidermolysis bullosa simplex patients.
Stephens K.; Ehrlich P.; Weaver M.; Le R.; Spencer A.; Sybert V.P.;
J. Invest. Dermatol. 108:349-353(1997)
Cited for: VARIANTS DM-EBS SER-176; SER-179 AND LYS-477;
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