Molecular Data
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Patient ID
Type Of Mutation
Genic Region
Nucleotide change
Nucleotide
Aminoacid change
Codon
Domain
Ref.
Mutation comments
Clinical Data ISTH mutations 390 Missense E28 4751A>G 4751 Y1584C 1584 A2 Described as type 1
Clinical Data ISTH mutations 205 Missense E28 4751A>G 4751 Y1584C 1584 A2 Corrales et al. 2012 Described as Type 1
Clinical Data ISTH mutations 111 Missense E28 4751A>G 4751 Y1584C 1584 A2 Corrales et al. 2012 Described as Type 1
Clinical Data ISTH mutations 161 Missense E28 4751A>G 4751 Y1584C 1584 A2 Corrales et al. 2012 Described as Type 1
Clinical Data ISTH mutations 112 INDEL E5 375-376delGTinsC - Y126TfsX49 - D1 Corrales et al. 2009 In homozygosis
Clinical Data ISTH mutations 243 Indel E5 375_376delGTinsC 375 Y126TfsX46 126 D1 Corrales et al. 2010 All mutations in cis
Clinical Data ISTH mutations 312 Missense E30 5278G>A 5278 V1760I 1760 A3 Described as type 1
Clinical Data ISTH mutations 64 Missense E28 4225G>T 4225 V1409F 1409 A1 Corrales et al. 2009 Compound heterozygous in trans
Clinical Data ISTH mutations 41 Gene conversion E28 4079T>C 4079 V1360A 1360 A1 Corrales et al. 2009 Gene conversion in homozygosis
Clinical Data ISTH mutations 41 Gene conversion E28 3835G>A 3835 V1279I 1279 A1 Corrales et al. 2009 Gene conversion in homozygosis
Clinical Data ISTH mutations 37 Missense E28 3835G>T 3835 V1279F 1279 A1 Corrales et al. 2009 Previously described as 2M.
Clinical Data ISTH mutations 32 PSSM E28 3744A>C 3744 T1248T 1248 Interdomain Corrales et al. 2012 New
Clinical Data ISTH mutations 271 Missense E26 3467C>T 3467 T1156M 1156 D3 Corrales et al. 2010 Compount heterozygous in trans
Clinical Data ISTH mutations 220 Missense E42 7211G>T 7211 S2404M 2404 Interdomain New
Clinical Data ISTH mutations 25 PSSM E6 546G>A 546 S182S 182 D1 Corrales et al. 2011 Sinonymous mutation. Potential affected acceptor splice site of intron 5.
Clinical Data ISTH mutations 7 Deletion E29 5096delC 5096 S1700PfsX11 1700 A3 Corrales et al. 2012 New
Clinical Data ISTH mutations 11 Missense E28 4628C>T 4628 S1543F 1543 A2 Corrales et al. 2010
Clinical Data ISTH mutations 99 PSSM E28 3789G>A 3789 S1263S 1263 Interdomain Corrales et al. 2012 Described as SNP in VWFdb nut not in SNPdb. Unknown phase
Clinical Data ISTH mutations 196 Missense E28 3788C>T 3788 S1263L 1263 Interdomain Corrales et al. 2012 No mutation identified in the 2N region
Clinical Data ISTH mutations 99 Missense E21 2771G>A 2771 R924Q 924 D3 Corrales et al. 2012 Described as Type 1 and 2N. Unknown phase