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Table 2 Characteristics of the Fabry mutations gathered from literature

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

Mutant: nucleotide aminoacid PSSM MUPRO SDM PSAmc PSAsc sec_stru domain ACT.SITE resp ref
c.58G > C p.A20P -2 -2.00 NA NA NA NA leader pep. No Yes [2]
c.153G > A p.M51I -2 -0.51 0.414 0.0 27.1 O(15) TIM No Yes [41]
c.155G > A p.C52Y -5 -1.37 -1.582 29.5 27.3 O(15) TIM No No [14]
c.194G > C p.S65T -1 -0.85 0.330 0.0 25.5 O(15) TIM No Yes [42]
c.214A > G p.M72V -1 -0.27 -1.232 0.0 0.0 A(10) TIM No Yes [2]
c.426C > G p.C142W -7 -0.91 0.167 64.6 33.8 O(15) TIM Yes No [18]
c.436C > T p.P146S -3 -0.44 -0.983 1.4 19.5 O(15) TIM No Yes [2]
c.467C > T p.A156V -1 -0.26 -0.357 0.0 0.6 A(11) TIM No Yes [2]
c.496C > G p.L166 0 -1.18 -0.244 0.0 3.9 B(5) TIM No Yes [2]
c.548G > C p.G183A -2 -0.85 2.330 1.5 5.3 A(18) TIM No Yes [14]
c.581C > T p.T194I -2 -0.57 2.008 76.0 2.6 A(18) TIM No Yes [43]
c.647A > G p.Y216C -3 -1.16 -2.319 11.3 1.9 A(6) TIM No Yes [14]
c.692A > G p.D231G -2 -2.24 -2.726 49.3 66.7 P(5) TIM Yes No [18]
c.796G > A p.D266N -3 -1.30 -0.754 12.8 4.4 O(12) TIM No No [18]
c.868A > C p.M290L 0 -0.18 0.486 0.5 2.9 A(14) TIM No Yes [44]
c.890C > T p.S297F -3 -0.73 2.714 0.0 0.0 B(7) TIM Yes No [18]
c.1118G > A p.G373D -3 -0.98 0.251 0.5 0.3 O(12) beta No No [2]
c.1117G > A p.G373S -3 -1.18 -0.256 0.5 0.3 O(12) beta No No [2]
c.1244T > C p.L415P -2 -2.06 -1.232 0.0 0.7 B(9) beta No No [45]
  1. Mutations not included in the training set of the predictive method are listed with 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. Responsiveness in vitro to 1-deoxy-galactonojirimycin was deduced by literature and the reference paper is reported alongside.