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