Table 2 ACO2 rare coding variants identified in PD and HC.
Rare variant | Exon | Functional domain | PD (n = 1474) | HC (n = 1456) |
|---|---|---|---|---|
c.52 C > T; p.Arg18Trp | 1 | - | 2 | 0 |
c.85 C > T; p.Arg29Trp | 2 | - | 0 | 1 |
c.220 C > G; p.Leu74Val | 3 | Aconitase hydratase domain | 0 | 1 |
c.236 G > C; p.Ser79Thr | 3 | Aconitase hydratase domain | 2 | 2 |
c.260 C > T; p.Ser87Leu | 3 | Aconitase hydratase domain | 0 | 1 |
c.400 G > A; p.Val134Ile | 3 | Aconitase hydratase domain | 1 | 0 |
c.409 G > A; p.Glu137Lys | 3 | Aconitase hydratase domain | 0 | 2 |
c.754 G > A; p.Ala252Thr | 6 | Aconitase hydratase domain | 1 | 0 |
c.1069 C > G; p.Leu357Val | 9 | Aconitase hydratase domain | 1 | 1 |
c.1075 C > T; p.His359Tyr | 9 | Aconitase hydratase domain | 1 | 0 |
c.1294 T > C; p.Tyr432His | 10 | Aconitase hydratase domain | 0 | 1 |
c.1387 G > T; p.Gly463Trp | 11 | Aconitase hydratase domain | 25 | 8 |
c.1870A>G; p.Ile624Val | 15 | Aconitase C-terminal domain | 0 | 1 |
c.2300 G > A; p.Arg767His | 18 | - | 1 | 0 |
Total | 34 | 18 |
