Variant position: 327 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 FDAELSQMQTHVSDTSVVLS MDNNRNLDLDSIIAEVKAQYE
Chimpanzee FDAELSQMQTHVSDTSVVLS MDNNRNLDLDSIIAEVKAQYE
Mouse FDAELSQMQTHVSDTSVVLS MDNNRSLDLDSIIAEVKAQYE
Rat FDAELSQMQTHVSDTSVVLS MDNNRSLDLDSIIAEVKAQYE
Bovine FDAELSQMQTHVSDTSVVLS MDNNRSLDLDSIIAEVKAQYE
Xenopus laevis YEAELRELQEQISDTSVVLS MDNNRALDMDSIIAEVKAQYE
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.
Novel K5 and K14 mutations in German patients with the Weber-Cockayne variant of epidermolysis bullosa simplex.
Mueller F.B.; Kuester W.; Bruckner-Tuderman L.; Korge B.P.;
J. Invest. Dermatol. 111:900-902(1998)
Cited for: VARIANTS WC-EBS LEU-152; LYS-327 AND HIS-328;
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