Sequence information
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:
NSETSTKRAAVYRMNRNHRG
L CVIVNNHSFTSLKDRQGTHK
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 NSETSTKRAAVYRMNRNHRGL CVIVNNHSFTS-LKDRQGTHK
Zebrafish EIKDKSVR----------KRL ALLINNVDFDDKAMKRSGSE
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
Chain
220 – 415
Caspase-10 subunit p23/17
Alternative sequence
241 – 307
Missing. In isoform 6.
Alternative sequence
248 – 521
Missing. In isoform 7.
Alternative sequence
274 – 521
Missing. In isoform C.
Literature citations
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.;
Cell 98:47-58(1999)
Cited for: VARIANT ALPS2A PHE-285; VARIANT ILE-410; ALTERNATIVE SPLICING (ISOFORMS B AND D);
Disclaimer:
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.