p.Glu60* | Low | Low | Low | Low | Potentiator +corrector | 0/1 [21] | | 0/1 (0%) |
p.Tyr122* | Low | High | High | Low | Potentiator | 6/9 [5] | 8/14 [19] | 14/23 (60%) |
p.Ser434* | Moderate | High | High | Moderate | Potentiator | | | |
p.Ser466*UGA | High | High | Low | Low | Potentiator +corrector | | | |
p.Gly542* | Moderate | High | Moderate | Moderate | Potentiator +corrector | 0/1 [5] 0/4 [21] 0/3 [20] | 4/4 [22] 2/3 [18] 8/14 [19] | 14/29 (48%) |
p.Arg553* | Low | Low | Moderate | Low | Potentiator +corrector | 0/1 [5] 0/3 [21] 0/1 [20] | 1/2 [19] | 1/7 (14%) |
p.Arg785* | Low | Low | High | Low | Potentiator | | | |
p.Trp846*UGA | High | Low | High | Low | Potentiator | | 0/1 [19] | 0/1 (0%) |
p.Tyr1092*UAG | Low | High | Moderate | Low | Potentiator | 0/1 [21] | | 0/1 (0%) |
p.Glu1104* | Low | High | Moderate | Low | Potentiator +corrector | | 1/2 [19] | 1/2 (50%) |
p.Arg1128* | Moderate | High | High | Moderate | Potentiator | | | |
p.Arg1162* | Low | High | High | Low | Potentiator | 0/1 [5] 0/1 [21] | 1/2 [19] | 1/4 (25%) |
p.Ser1196* | High | High | High | High | Potentiator | | | |
p.Trp1282* | Moderate | High | High | Moderate | Potentiator | 4/6 [23] 7/9 [13] 0/1 [5] 0/1 [21] 0/1 [20] | 12/17 [22] 8/14 [18] 2/4 [19] | 33/53 (62%) |
p.Gln1313* | Low | High | High | Low | Potentiator | | 0/1 [19] | 0/1 (0%) |