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Table 2 Details of molecular variants identified in PIGN, PIGA, and PIGT

From: Analyzing clinical and genetic characteristics of a cohort with multiple congenital anomalies-hypotonia-seizures syndrome (MCAHS)

Patients IDMutationPathogenicity predictionMAF datab
Mutation siteParental OriginPolyphen2SIFTMutation TasterExACGnomAD1000GenomesdbSNP
PIGN (NM_012327)  
 1c.2122C > T(p.Q708X)PaternalProbably damagingn.a.Disease causing////
c.2557A > C(p.T853P)MaternalProbably damagingDeleteriousDisease causing////
 2c.2759_2760del(p.920fs)Paternaln.a.n.a.Disease causing////
c.1172 + 1G > AMaternaln.a.n.a.Disease causing////
 3c.1109A > C(p.Q370P)PaternalProbably damagingDeleteriousDisease causing / / / /
c.694A > T(p.K232X)MaternalProbably damagingn.a.Disease causing / / /
 4c.1694G > A(p.R565H)PaternalProbably damagingDeleteriousDisease causing0.0000160.0000320.00020.0002
c.2663 T > C(p.I888T)PaternalProbably damagingDeleteriousDisease causing0.0001///
c.963G > A(p.Q321Q)Maternaln.a.n.a.Disease causing0.0012///
 5c.343G > C(p.G115R)PaternalProbably damagingDeleteriousDisease causing////
c.1694G > T(p.R565L)MaternalProbably damagingDeleteriousDisease causing0.0000160000320.0002/
 6c.505C > T(p.Q169X)PaternalProbably damagingDeleteriousDisease causing0000
c.769 T > G(p.F257V)MaternalProbably damagingDeleteriousDisease causing0.00011000
 7c.895 C > T(p.Q299X)PaternalProbably damagingDeleteriousDisease causing///0.000008
c.629 T > C(p.L210S)MaternalProbably damagingDeleteriousDisease causing////
PIGA (NM_002641)  
 8c.356G > A(p.R119Q)MaternalProbably damagingDeleteriousDisease causing////
 9c.713A > G(p.K238R)MaternalProbably damagingDeleteriousDisease causing////
 10c.356G > A(p.R119Q)MaternalProbably damagingDeleteriousDisease causing////
 11c.241C > T(p.R81C)MaternalProbably damagingDeleteriousDisease causing///
 12c.929 T > A(p.L310H)MaternalProbably damagingDeleteriousDisease causing////
 13c.1370C > T(p.A457V)MaternalProbably damagingNeutralDisease causing////
 14c.340A > T(p.R114W)MaternalProbably damagingDeleteriousDisease causing////
 15c.166C > T(p.L56F)De novoProbably damagingDeleteriousDisease causing////
PIGT (NM_015937)  
 16c.469 T > G(p.F157V)PaternalProbably damagingDeleteriousDisease causing////
c.1579_1581delinsCAT(N527H)PaternalProbably damagingDeleteriousDisease causing////
c.1120A > G(p.N374D)MaternalProbably damagingDeleteriousDisease causing////
 17c.514C > T(p.R172C)PaternalProbably damagingDeleteriousDisease causing0.0000080.00004//
c.98delA(p.E33Dfs*11)Maternaln.a.DeleteriousDisease causing////
  1. MAF minor allele frequency, ExAC exome aggregation consortium, GnomAD genome aggregation database, dbSNP database of single nucleotide polymorphism, n.a. not available, / not included