Sequence information
Variant position: 414 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:
KLFFIQACQGEEIQPSVSIE
A DALNPEQAPTSLQDSIPAEA
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 KLFFIQACQGEEIQPSVSIEA DALNPEQAPTSLQDSIPAEA
Zebrafish KVILIQACRGGEHGRVWASDG EPDEPIEIED--DDFVHKEK
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
Active site
401 – 401
Alternative sequence
248 – 521
Missing. In isoform 7.
Alternative sequence
274 – 521
Missing. In isoform C.
Mutagenesis
401 – 401
C -> A. Abolishes proteolytic activity.
Literature citations
Inactivating mutations of CASP10 gene in non-Hodgkin lymphomas.
Shin M.S.; Kim H.S.; Kang C.S.; Park W.S.; Kim S.Y.; Lee S.N.; Lee J.H.; Park J.Y.; Jang J.J.; Kim C.W.; Kim S.H.; Lee J.Y.; Yoo N.J.; Lee S.H.;
Blood 99:4094-4099(2002)
Cited for: VARIANT NHL VAL-414;
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.