Variant position: 156 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 391 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 LNFFFPDEKPYSEEESRRVR RNKRSKSNEGADGPVKNKKKG
Mouse LNFFFPDEKAYSEEESRRVR RNKRSKSGEGADGPVKNKKKG
Bovine VNFFIPKEKSYSEEESRRVR RNKRSKSSEGADGPVKNKKKG
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 – 391 Ectodysplasin-A, membrane form
63 – 391 Extracellular
136 – 391 Missing. In isoform 2.
143 – 391 Missing. In isoform 5.
148 – 391 Missing. In isoform 4, isoform 6 and isoform 7.
159 – 159 R -> A. Abolishes proteolytic processing.
A novel arginine-->Serine mutation in EDA1 in a Japanese family with X-linked anhidrotic ectodermal dysplasia.
Aoki N.; Ito K.; Tachibana T.; Ito M.;
J. Invest. Dermatol. 115:329-330(2000)
Cited for: VARIANT XHED SER-156;
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