Variant position: 328 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 DAELSQMQTHVSDTSVVLSM DNNRNLDLDSIIAEVKAQYEE
Chimpanzee DAELSQMQTHVSDTSVVLSM DNNRNLDLDSIIAEVKAQYEE
Mouse DAELSQMQTHVSDTSVVLSM DNNRSLDLDSIIAEVKAQYED
Rat DAELSQMQTHVSDTSVVLSM DNNRSLDLDSIIAEVKAQYED
Bovine DAELSQMQTHVSDTSVVLSM DNNRSLDLDSIIAEVKAQYED
Xenopus laevis EAELRELQEQISDTSVVLSM DNNRALDMDSIIAEVKAQYED
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.
A new mutation in the linker 12 domain of keratin 5 in a Chinese family with Weber-Cockayne epidermolysis bullosa simplex.
Li J.-G.; Feng J.; Xiao S.-X.; Ai Y.-L.; Wang J.-M.; Peng Z.-H.;
Clin. Exp. Dermatol. 29:539-541(2004)
Cited for: VARIANT WC-EBS GLY-328;
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