Variant position: 285 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 521 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 NSETSTKRAAVYRMNRNHRG LCVIVNNHSFTS-LKDRQGTHK
Zebrafish EIKDKSVR----------KR LALLINNVDFDDKAMKRSGSE
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
220 – 415 Caspase-10 subunit p23/17
241 – 307 Missing. In isoform 6.
248 – 521 Missing. In isoform 7.
274 – 521 Missing. In isoform C.
Inherited human caspase 10 mutations underlie defective lymphocyte and dendritic cell apoptosis in autoimmune lymphoproliferative syndrome type II.
Wang J.; Zheng L.; Lobito A.; Chan F.K.; Dale J.; Sneller M.; Yao X.; Puck J.M.; Straus S.E.; Lenardo M.J.;
Cited for: VARIANT ALPS2A PHE-285; VARIANT ILE-410; ALTERNATIVE SPLICING (ISOFORMS B AND D);
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