Table 3 Comparison of all missense variants of the ASAH1 gene (NM_177924.5) reported to cause SMA-PME.
cDNA change | Amino acid change | Protein chain | Thermal stability changes (Kcal/mol) | SIFT & PolyPhen2 | Mutation Taster | CADD PHRED score | Frequency in gnomAD (Aggregated) |
|---|---|---|---|---|---|---|---|
c.109 C > A | P37T | α-subunit | 2.848 | Deleterious &Probably Damaging | Disease causing | 27.1 | 0 |
c.125 C > T | T42M | -0.939 | Deleterious & Probably Damaging | Disease causing | 32 | 3 | |
c.124 A > G | T42A | -0.133 | Tolerated &Benign | Disease causing | 24 | 4 | |
c.410 A > G | Y137C | 4.601 | Deleterious &Probably Damaging | Disease causing | 26.6 | 6 | |
c.456 A > C | K152N | β-subunit | − 0.585 | Tolerated &Benign | Disease causing | 22.5 | 16 |
c.518 A > T | N173I | − 0.148 | Tolerated &Probably Damaging | Disease causing | 24.9 | 0 | |
c.536 C > T | T179I | 6.262 | Deleterious &Probably Damaging | Disease causing | 26.3 | 2 | |
c.556 A > G | T186A | 1.709 | Deleterious & Benign | polymorphism | 22.5 | 2 | |
c.620 A > T | Y207F | 0.274 | Tolerated &Probably Damaging | Disease causing | 24.3 | 105 | |
c.1178T > C | I393T | 0.493 | Tolerated &Benign | Disease causing | 20.8 | 0 |