Variant position: 186 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 639 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 KVDPEIQNVKAQEREQIKTL NNKFASFIDKVRFLEQQNQVL
Mouse KVDPEIQNVKSQEREQIKTL NNKFASFIDKVRFLEQQNQVL
Rat KVDPEIQNVKSQEREQIKTL NNKFASFIDTVRFLEQQNQVL
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.
Type Positions Description
1 – 639 Keratin, type II cytoskeletal 2 epidermal
178 – 491 IF rod
178 – 213 Coil 1A
A novel asparagine-->aspartic acid mutation in the rod 1A domain in keratin 2e in a Japanese family with ichthyosis bullosa of Siemens.
Takizawa Y.; Akiyama M.; Nagashima M.; Shimizu H.;
J. Invest. Dermatol. 114:193-195(2000)
Cited for: VARIANT IBS ASP-186;
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