ISTH mutations

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Search for:     Any field VWD Classification Exon No Nucleotide Change Amino Acid Substitution Alleles Functional Studies Country Laboratory Comments Reference Ref.   Contains Equals Starts with ... More than ... Less than ... Equal or more than ... Equal or less than ... Empty

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Exon No	Alleles	VWD Classification	Nucleotide Change	Amino Acid Substitution	Functional Studies	Country	Laboratory	Comments	Ref.
21	376	Type 2N	2771G>A	R924Q	Yes	Argentina	Lazzari	Previously reported as a polymorphism (Hilbert et al., 2003). Observed in 2 rela More ...	Casais et al., 2006
21	36	Type 1	2771G>A	R924Q	No	EU	MCMDM-1VWD	Associated with a normal multimer pattern. Also reported as a polymorphism (Hilb More ...	Goodeve et al., 2007
21	16	Type 1	2771G>A	R924Q	No	Canada	Lillicrap	Also reported as a polymorphism (Hilbert et al., 2003; Cumming et al., 2006).	James et al., 2007
21	16	Type 2N	2771G>A	R924Q	No	Brazil	Hemocentro UNICAMP	This mutation was found to be heterozygous in a type 2N VWD patient with a histo More ...