Literature summary for 3.4.24.87 extracted from

Plaimauer, B.; Fuhrmann, J.; Mohr, G.; Wernhart, W.; Bruno, K.; Ferrari, S.; Konetschny, C.; Antoine, G.; Rieger, M.; Scheiflinger, F.
Modulation of ADAMTS13 secretion and specific activity by a combination of common amino acid polymorphisms and a missense mutation (2006), Blood, 107, 118-125.

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Cloned(Commentary)

Cloned (Comment)	Organism
-	Homo sapiens

Protein Variants

Protein Variants	Comment	Organism
additional information	introduction of polymorphisms R7W, Q448E, and A732V have no or only minor effects on ADAMTS13 secretion. In contrast, P618A, R1336W, and the A732V/P618A combination strongly reduce ADAMTS13-specific activity and antigen levels. R7W and Q448E are positive modifiers of ADAMTS13 secretion in the context of P618A and A732V but neither can rescue the severely reduced specific activity conferred by P618A. In the context of R133W, polymorphisms R7W and Q448E enhance the detrimental effect of the missense mutation and lead to undetectable enzyme activity	Homo sapiens

Organism

Organism	UniProt	Comment	Textmining
Homo sapiens	-	-	-

Synonyms

Synonyms	Comment	Organism
ADAMTS13	-	Homo sapiens

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Release 2023.1 (January 2023)