Variant position: 139 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 748 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 VIDGRFEGFIQTRGGTFY-VE PAERYIK--DRTLPFHSVIYHED
Mouse VIDGRFEGFIKTRGGTFY-IE PAERYIK--DRILPFHSVIY
Rat VVDGRFEGFIQTRGGTFY-IE PAERYIK--DRILPFHSVIY
Pig VIDGRFEGFIQTHGGTFY-IE PAERYIK--DRTLPFHSVIY
Bovine VIDGRFEGFIQTHGGTFY-VE PAERYIK--DRTLPFHSVIY
Xenopus laevis VVDGKSKGLLKPLKAHSY-VE PSERFFK--DQAVPFHSVMY
Caenorhabditis elegans VFDGVFEGHIQTGEGRRYSID KAAKYFERDDRPTQYHSIIY
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
20 – 213
20 – 672 Extracellular
19 – 319 Missing. In isoform 2.
Whole-exome sequencing identifies ADAM10 mutations as a cause of reticulate acropigmentation of Kitamura, a clinical entity distinct from Dowling-Degos disease.
Kono M.; Sugiura K.; Suganuma M.; Hayashi M.; Takama H.; Suzuki T.; Matsunaga K.; Tomita Y.; Akiyama M.;
Hum. Mol. Genet. 22:3524-3533(2013)
Cited for: VARIANTS RAK SER-139 AND TYR-524;
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