A phenylalanine 402 to leucine mutation is responsible for a stable inactive conformation of antithrombin.

doi:10.1016/0049-3848(94)90202-x

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Article

A phenylalanine 402 to leucine mutation is responsible for a stable inactive conformation of antithrombin.

Thrombosis research - 1 Nov 1994

Emmerich J, Chadeuf G, Coetzee M J, Alhenc-Gelas M, Fiessinger J N, Aiach M

Abstract excerpt

In a South African family with antithrombin deficiency and unexplained thrombosis, genomic DNA analysis revealed a substitution of Phe 402 by Leu. This mutation involves an amino acid located in the carboxyterminal side of the antithrombin reactive loop and has already been observed in a French f...

Topics

Adolescent
Adult
Antithrombins
Female
Genotype
Humans
Leucine
Male
Mutation
Pedigree
Phenotype
Phenylalanine
Protein Conformation

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