Variant position: 577 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1221 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 FMPAAEGTVCGLSMWCRQGQ CVKFGELGPRPIHGQWSAWSK
Mouse FMPAAEGTACGLSMWCRQGQ CVKLGELGPRPIHGQWSAWSK
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
285 – 1221 A disintegrin and metalloproteinase with thrombospondin motifs 18
498 – 577 Disintegrin
566 – 577
The syndrome of microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) is caused by mutations in ADAMTS18.
Aldahmesh M.A.; Alshammari M.J.; Khan A.O.; Mohamed J.Y.; Alhabib F.A.; Alkuraya F.S.;
Hum. Mutat. 34:1195-1199(2013)
Cited for: VARIANTS MMCAT PRO-202 AND TRP-577;
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