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Table 1 Characteristics of the Fabry mutations tested by expression in COS-7 cells

From: Therapy of Fabry disease with pharmacological chaperones: from in silico predictions to in vitro tests

Mutant: nucleotide Amino acid fold increase PSSM MUPRO SDM PSAmc PSAsc sec_stru domain Active site Pheno type ref
c.688G > A p.A230T 2.1 0 -2.33 -0.48 4 64.8 P(5) TIM Yes Classic [24]
c.730G > C p.D244H 3.3 -1 -1.74 0.379 18.6 48.7 A(11) TIM No Classic [31]
c.805G > A p.V269M 2.5 0 -0.77 -0.212 3.2 0 O(12) TIM No Classic [28]
c.838C > A p.Q280K 3.1 0 -1.00 -1.126 0 17.3 A(14) TIM No Classic [32]
c.898C > T p.L300F 5.8 -1 -1.60 -0.732 9.9 0 O(6) TIM No ? [30]
c.902G > C p.R301P 3.7 -1 -1.68 -1.228 65.2 17.5 O(6) TIM No Classic [25]
c.928C > T p.L310F 8.9 0 -1.34 -1.334 1.7 5.1 A(5) TIM No Classic [26]
c.1023A > C p.E341D 2.2 -1 -0.88 -1.055 0 0 B(9) beta No Classic [27]
c.1228A > G p.T410A 3.5 -1 -1.47 0.215 0 0 O(1) beta No Variant [29]
  1. Mutations tested by transient transfection are listed together with their responsiveness to 1-deoxy-galactonojirimycin expressed as fold increase, the scores obtained by PSSM (assessment of conservation in homologous sequences), the scores obtained by SDM and MUPRO (assessment of the effect of mutations on thermodynamic stability), % main chain accessibility (PSAmc), % side chain accessibility (PSAsc), occurrence in A alpha-helix, B beta strand, P poly-proline II or O other (with the length of the secondary structure in which the mutation occur in brackets), occurrence in specific structural domains and in the active site. Severity in patients was deduced from literature and the reference paper is reported alongside.