Literature summary for 3.4.22.63 extracted from

Zhu, S.; Hsu, A.P.; Vacek, M.M.; Zheng, L.; Schaeffer, A.A.; Dale, J.K.; Davis, J.; Fischer, R.E.; Straus, S.E.; Boruchov, D.; Saulsbury, F.T.; Lenardo, M.J.; Puck, J.M.
Genetic alterations in caspase-10 may be causative or protective in autoimmune lymphoproliferative syndrome (2006), Hum. Genet., 119, 284-294.

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Protein Variants

Protein Variants	Comment	Organism
I406L	impairs apoptosis when transfected alone and dominantly inhibits apoptosis mediated by wild-type caspase-10 in a co-transfection assay	Homo sapiens
L285F	impairs apoptosis when transfected alone and dominantly inhibits apoptosis mediated by wild-type caspase-10 in a co-transfection assay	Homo sapiens
V410I	no dominant negative effect in co-transfection assay into H9 lymphocytic cell line. Protection from severe disease by caspase-10 V410I in 63 families with autoimmune lymphoproliferative syndrome Ia due to dominant Fas mutation	Homo sapiens
Y446C	no dominant negative effect in co-transfection assay into H9 lymphocytic cell line	Homo sapiens

Natural Substrates/ Products (Substrates)

Natural Substrates	Organism	Comment (Nat. Sub.)	Natural Products	Comment (Nat. Pro.)	Rev.	Reac.
additional information	Homo sapiens	genetic alterations in caspase-10 may be causative or protective in autoimmune lymphoproliferative syndrome	?	-	?

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

Substrates and Products (Substrate)

Substrates	Comment Substrates	Organism	Products	Comment (Products)	Rev.	Reac.
additional information	genetic alterations in caspase-10 may be causative or protective in autoimmune lymphoproliferative syndrome	Homo sapiens	?	-	?

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Release 2023.1 (January 2023)