Table 1 G6PD missense variants detected within the HAAD and KGA population datasets and their relative stability effect (∆∆G) for G6PD protein.
Variant ID | Nucleotide | Amino Acid | ∆∆G (kcal/mol) | Class |
---|---|---|---|---|
rs34193178 G | c.1048 G > C | D350H | 0.374 | N/A |
rs76723693 G | c.968 T > C | L323P | −0.872 | III |
rs782754619 C | c.634 A > G | M212V | −1.147 | N/A |
rs181277621 T | c.311 G > A | R104H | −1.401 | N/A |
chrX:g.153762577 A > G | c.620 T > C | M207T | −1.145 | N/A |
chrX:g.153775028 C > T | c.58 G > A | N/A | N/A | N/A |
rs137852313 T | c.466 G > A | E156K | 0.539 | III |
rs1050829 C | c.376 A > G | N126D | 0.887 | IV |
rs1050828 T | c.202 G > A | V68M | −1.347 | III |