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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
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Journal of Translational Medicine

ISSN: 1479-5876

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