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Table 2 Detailed information of missense variants identified in RIPPLY3

From: A loss-of-function mutation p.T52S in RIPPLY3 is a potential predisposing genetic risk factor for Chinese Han conotruncal heart defect patients without the 22q11.2 deletion/duplication

Patient ID Variants Status Diagnosis SIFT score PloyPhen V2 Score Mutation Taster
NP_061835.1 NM_018962.2
F029 p.P30L c.89C>T Unreported TOF 0.01 0.35 p
F166 p.T52S c.155C>G rs745539198 TOF 0.17 0.79 p
A002 p.D113N c.337G>A rs747419773 TGA/VSD/ASD/PS 1.00 0.003 p
PI011 p.V179D c.536T>A Unreported PA/VSD/PDA 0.71 0 p
  1. TOF tetralogy of Fallot, TGA transposition of the great arteries, VSD ventricular septal defect, ASD atrial septal defect, PS pulmonary stenosis, PA/VSD pulmonary atresia with ventricular septal defect, PDA patent ductus arteriosis, p polymorphism