Table 2 Details of molecular variants identified in PIGN, PIGA, and PIGT
Patients ID | Mutation | Pathogenicity prediction | MAF datab | ||||||
|---|---|---|---|---|---|---|---|---|---|
Mutation site | Parental Origin | Polyphen2 | SIFT | Mutation Taster | ExAC | GnomAD | 1000Genomes | dbSNP | |
PIGN (NM_012327) | |||||||||
1 | c.2122C > T(p.Q708X) | Paternal | Probably damaging | n.a. | Disease causing | / | / | / | / |
c.2557A > C(p.T853P) | Maternal | Probably damaging | Deleterious | Disease causing | / | / | / | / | |
2 | c.2759_2760del(p.920fs) | Paternal | n.a. | n.a. | Disease causing | / | / | / | / |
c.1172 + 1G > A | Maternal | n.a. | n.a. | Disease causing | / | / | / | / | |
3 | c.1109A > C(p.Q370P) | Paternal | Probably damaging | Deleterious | Disease causing | / | / | / | / |
c.694A > T(p.K232X) | Maternal | Probably damaging | n.a. | Disease causing | / | / | / | / | |
4 | c.1694G > A(p.R565H) | Paternal | Probably damaging | Deleterious | Disease causing | 0.000016 | 0.000032 | 0.0002 | 0.0002 |
c.2663 T > C(p.I888T) | Paternal | Probably damaging | Deleterious | Disease causing | 0.0001 | / | / | / | |
c.963G > A(p.Q321Q) | Maternal | n.a. | n.a. | Disease causing | 0.0012 | / | / | / | |
5 | c.343G > C(p.G115R) | Paternal | Probably damaging | Deleterious | Disease causing | / | / | / | / |
c.1694G > T(p.R565L) | Maternal | Probably damaging | Deleterious | Disease causing | 0.000016 | 000032 | 0.0002 | / | |
6 | c.505C > T(p.Q169X) | Paternal | Probably damaging | Deleterious | Disease causing | 0 | 0 | 0 | 0 |
c.769 T > G(p.F257V) | Maternal | Probably damaging | Deleterious | Disease causing | 0.00011 | 0 | 0 | 0 | |
7 | c.895 C > T(p.Q299X) | Paternal | Probably damaging | Deleterious | Disease causing | / | / | / | 0.000008 |
c.629 T > C(p.L210S) | Maternal | Probably damaging | Deleterious | Disease causing | / | / | / | / | |
PIGA (NM_002641) | |||||||||
8 | c.356G > A(p.R119Q) | Maternal | Probably damaging | Deleterious | Disease causing | / | / | / | / |
9 | c.713A > G(p.K238R) | Maternal | Probably damaging | Deleterious | Disease causing | / | / | / | / |
10 | c.356G > A(p.R119Q) | Maternal | Probably damaging | Deleterious | Disease causing | / | / | / | / |
11 | c.241C > T(p.R81C) | Maternal | Probably damaging | Deleterious | Disease causing | / | / | / | / |
12 | c.929 T > A(p.L310H) | Maternal | Probably damaging | Deleterious | Disease causing | / | / | / | / |
13 | c.1370C > T(p.A457V) | Maternal | Probably damaging | Neutral | Disease causing | / | / | / | / |
14 | c.340A > T(p.R114W) | Maternal | Probably damaging | Deleterious | Disease causing | / | / | / | / |
15 | c.166C > T(p.L56F) | De novo | Probably damaging | Deleterious | Disease causing | / | / | / | / |
PIGT (NM_015937) | |||||||||
16 | c.469 T > G(p.F157V) | Paternal | Probably damaging | Deleterious | Disease causing | / | / | / | / |
c.1579_1581delinsCAT(N527H) | Paternal | Probably damaging | Deleterious | Disease causing | / | / | / | / | |
c.1120A > G(p.N374D) | Maternal | Probably damaging | Deleterious | Disease causing | / | / | / | / | |
17 | c.514C > T(p.R172C) | Paternal | Probably damaging | Deleterious | Disease causing | 0.000008 | 0.00004 | / | / |
c.98delA(p.E33Dfs*11) | Maternal | n.a. | Deleterious | Disease causing | / | / | / | / | |