ISTH mutations
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Exon No
VWD Classification
Nucleotide Change
Amino Acid Substitution
Functional Studies
28 Type 2B 3797C>T P1266L ? Germany Ruggeri Investigated four patients from three unrelated families Holmberg et al, 1993
28 Type 1 3797C>T P1266L No Netherlands Bertina Patients heterozygous, second allele no expression at mRNA level. Mutations corr More ... Eikenboom et al, 1993
28 12 Type 1 3797C>T P1266L No EU MCMDM-1VWD Mutation associated with an abnormal multimer pattern. This mutation results fro More ... Goodeve et al., 2007
28 28 Type 1 3797C>T P1266L No Canada Lillicrap Occurred with a frequency of 0.4 in unaffected family members. Occurred on the s More ... James et al., 2007