Prothrombin Carora: hypoprothrombinaemia caused by substitution of Tyr-44 by Cys

Autor:	Arlette Ruiz-Saez, William Sun, Norma B. de Bosch, Melissa C. Burkart, Sandra J. Friezner Degen
Rok vydání:	1999
Předmět:	Genetics chemistry.chemical_classification Mutation Hypoprothrombinemias Single-strand conformation polymorphism Hematology Biology medicine.disease_cause medicine.disease Molecular biology Exon Residue (chemistry) chemistry medicine Nucleotide Hypoprothrombinemia Gene
Zdroj:	British Journal of Haematology. 105:670-672
ISSN:	0007-1048
DOI:	10.1046/j.1365-2141.1999.01395.x
Popis:	Two members of a family from Carora, Venezuela, were found to have prothrombin activity levels at 4% of normal and undetectable antigen levels. All exons of the prothrombin gene from the proband were sequenced and a mutation at nucleotide 1305 was identified that would result in the substitution of Cys for Tyr at residue 44. Residue 44 is present in the aromatic stack region of the protein. Substitution of a Cys in this region would result in an abnormal folding of the protein which could be the cause for the observed lack of secretion of the abnormal prothrombin.
Databáze:	OpenAIRE
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