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 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 37 Missense E28 3835G>T 3835 V1279F 1279 A1 Corrales et al. 2009 Previously described as 2M.
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 25 PSSM I50 8155+3G>C - - - - Corrales et al. 2011 No donor splice prediction
Clinical Data ISTH mutations 250 PSSM E3 126C>T 126 F42F 42 D1 Corrales et al. 2012 New. Unknown phase with R854Q
Clinical Data ISTH mutations 240 Deletion E28 5046delT 5046 A1683HfsX10 1683 Interdomain Corrales et al. 2012 New. Unknown phase with P1266L
Clinical Data ISTH mutations 249 PSSM E28 4923G>A 4923 R1641R 1641 A2 Corrales et al. 2012 New. Unknown phase with other mutations
Clinical Data ISTH mutations 249 Missense E42 7150C>T 7150 R2384W 2384 Interdomain Corrales et al. 2012 New. Unknown phase with other mutations
Clinical Data ISTH mutations 249 Missense E30 5311G>A 5311 G1771R 1771 A3 Corrales et al. 2012 New. Unknown phase with other mutations
Clinical Data ISTH mutations 249 PSSM E28 4917G>A 4917 L1639L 1639 A2 Corrales et al. 2012 New. Unknown phase with other mutations
Clinical Data ISTH mutations 319 Missense E34 5761C>T 5761 R1921W 1921 Interdomain New. In trans with mutations p.A542G and c.533-2A>G
Clinical Data ISTH mutations 92 Missense E14 1721>G 1721 P574R 574 D2 New. In trans with mutations p.A542G and c.533-2A>G
Clinical Data ISTH mutations 276 PSSM I31 5455+1G>A 5455+1 - - - Corrales et al. 2012 New. In trans with mutation p.C2235X
Clinical Data ISTH mutations 371 PSSM I14 1729+3A>G 1729+3 - - - New. In trans with mutation c.2820+1G>T
Clinical Data ISTH mutations 371 PSSM I21 2820+1G>T 2820+1 - - - New. In trans with mutation c.1729+3A>G
Clinical Data ISTH mutations 276 Insertion E38 6703insAGGC 6703 C2235X 2235 Interdomain Corrales et al. 2012 New. Direct STOP. In trans with mutation c.5455+1G>A
Clinical Data ISTH mutations 23 Nonsense E52 8347C>T 8347 Q2783X 2783 CK Corrales et al. 2012 New. Compound heterozygous in trans with mutation p.Q2470X
Clinical Data ISTH mutations 275 Deletion E11-32 - - - - D2-A3 New mutation identified by MPLA analysis
Clinical Data ISTH mutations 1 Duplication E13 - - - - - New mutation identified by MPLA analysis
Clinical Data ISTH mutations 57 Deletion E15 - - - - - Corrales et al. 2012 New mutation identified by MPLA analysis