Table 3. In-silico analysis of missense mutations of G6PD located on same position of amino acid residues identified in Korean G6PD deficiencies.
| Annotation | Protein change | WHO category | SIFT | PROVEAN | PolyPhen-2 | MutPred | MAPP | Align GVGD* | Scorecons* |
|---|---|---|---|---|---|---|---|---|---|
| Riley (Case 3) | p.Ile380Thr | Class I | Damaging (0.00) | Deleterious (-4.355) | Probably damaging (0.998) | Deleterious (0.886) | Bad (19.6) | Class C65 (GD 89.28) | Conserved (1) |
| Calvo Mackenna | p.Ile380Val | Class I | Tolerated (0.16) | Neutral (-0.904) | Possibly damaging (0.705) | Deleterious (0.744) | Bad (10.65) | Class C25 (GD 28.68) | Conserved (1) |
| Kangnam† (Case 4) | p.Cys385Gly | Class I | Tolerated (0.20) | Deleterious (-4.236) | Benign (0.007) | Deleterious (0.750) | Bad (15.41) | Class C65 (GD 158.23) | Conserved (1) |
| Tomah | p.Cys385Arg | Class I | Tolerated (0.21) | Deleterious (-4.100) | Probably damaging (0.976) | Deleterious (0.829) | Bad (34.86) | Class C65 (GD 179.53) | Conserved (1) |
| Madrid | p.Cys385Trp | Class I | Tolerated (0.11) | Deleterious (-4.446) | Probably damaging (0.999) | Deleterious (0.774) | Bad (32.95) | Class C65 (GD 214.36) | Conserved (1) |
| Lynwood | p.Cys385Phe | Class I | Tolerated (0.68) | Deleterious (-3.801) | Probably damaging (0.976) | Deleterious (0.724) | Bad (21.32) | Class C65 (GD 204.39) | Conserved (1) |
| Guadalajara (Case 5) | p.Arg387Cys | Class I | Damaging (0.00) | Deleterious (-7.069) | Probably damaging (0.998) | Deleterious (0.857) | Bad (29.01) | Class C65 (GD 179.53) | Conserved (1) |
| Beverly Hills | p.Arg387His | Class I | Damaging (0.01) | Deleterious (-4.456) | Probably damaging (1.000) | Deleterious (0.834) | Bad (14.41) | Class C25 (GD 28.82) | Conserved (1) |
| Not annotated (Case 6) | p.Pro396Arg | Class I | Damaging (0.00) | Deleterious (-8.120) | Probably damaging (1.000) | Deleterious (0.915) | Bad (41.48) | Class C65 (GD 102.71) | Conserved (1) |
| Not annotated | p.Pro396Ala | Class I | Damaging (0.00) | Deleterious (-7.218) | Probably damaging (0.997) | Deleterious (0.921) | Bad (20.00) | Class C25 (GD 26.87) | Conserved (1) |
| Bari | p.Pro396Leu | Class I | Damaging (0.00) | Deleterious (-9.023) | Probably damaging (1.000) | Deleterious (0.909) | Bad (26.92) | Class C65 (GD 97.78) | Conserved (1) |
*Multiple alignments of different vertebrate species obtained from Evolutionary annotation database (http://www.h-invitational.jp/evola/); †Novel mutation identified and annotated in this study.
Abbreviation: G6PD, glucose-6-phosphate dehydrogenase.