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 99 Missense E21 2771G>A 2771 R924Q 924 D3 Corrales et al. 2012 Described as Type 1 and 2N. Unknown phase
Clinical Data ISTH mutations 250 Missense E20 2561G>A 2561 R854Q 854 Interdomain Corrales et al. 2012 Described as type 2N. Unknown phase with F42F
Clinical Data ISTH mutations 402 Missense E20 2561G>A 2561 R854Q 854 D' Described as type 2N
Clinical Data ISTH mutations 382 Missense E20 2561G>A 2561 R854Q 854 Interdomain Homozygous mutation. Described as type 2N
Clinical Data ISTH mutations 232 Missense E20 2561G>A 2561 R854Q 854 Interdomain Corrales et al. 2012 Described as type 1 and 2N
Clinical Data ISTH mutations 223 Missense E20 2561G>A 2561 R854Q 854 Interdomain Corrales et al. 2012 Described as type 1 and 2N
Clinical Data ISTH mutations 197 Missense E20 2561G>A 2561 R854Q 854 - Corrales et al. 2010 Both mutations sould be in the same chromosome
Clinical Data ISTH mutations 348 Missense E20 2561G>A 2561 R854Q 854 Interdomain Described as type 2N
Clinical Data ISTH mutations 93 Missense E20 2561G>A 2561 R854Q 854 Interdomain Described as type 1 or 2N. Unknown phase with mutation p.R1306Q
Clinical Data ISTH mutations 298 Missense E19 2451T>A 2451 H817Q 817 D' Described as type 2N
Clinical Data ISTH mutations 42 Missense E19 2446C>T 2446 R816W 816 D' Corrales et al. 2009 In homozygosis
Clinical Data ISTH mutations 62 Missense E19 2446C>T 2446 R816W 816 D' Corrales et al. 2009 Compound heterozygous in trans
Clinical Data ISTH mutations 299 Deletion E18 2430delC 2430 P812RfsX30 812 D' Described
Clinical Data ISTH mutations 299 Missense E15 1831G>A 1831 D611N 611 D2 New
Clinical Data ISTH mutations 72 Missense E15 1781C>G 1781 A594G 594 D2 Corrales et al. 2009
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 135 Missense E14 1672G>T 1672 D558Y 558 D2 Corrales et al. 2010 Both mutations sould be in the same chromosome
Clinical Data ISTH mutations 92 Missense E14 1625C>G 1625 A542G 542 D2 In cis with mutation c.533-2A>G
Clinical Data ISTH mutations 319 Missense E14 1625C>G 1625 A542G 542 D2 In cis with mutation c.533-2A>G
Clinical Data ISTH mutations 167 Missense E14 1625C>G 1625 A542G 542 D2 Corrales et al. 2010 In homozygosis