Variant position: 273 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 472 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 HEEEMNALRGQVGGDVNVEM DAAPGVDLSRILNEMRDQYEK
Mouse HEEEMASMRGQVGGDVNVEM DAAPGVDLSRILNEMRDQYEK
Rat HEEEMASMRGQVGGDVNVEM DAAPGVDLSRILNEMRDQYEK
Chicken HEEEMNALRGQVGGEISVEM DAAPGIDLTKILAEMREQYES
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: VARIANT WC-EBS GLY-273;
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