Research Article

Whole-Exome Sequencing Identified a De Novo Mutation of Junction Plakoglobin (p.R577C) in a Chinese Patient with Arrhythmogenic Right Ventricular Cardiomyopathy

Table 1

The filtered data of whole exome sequencing.

GeneInheritanceTranscript VariantProtein VariantSIFTPolyPhen-2MutationTasterOMIM Clinical PhenotypeGTEx (expression in heart)ToppGene Function

JUPDe novo--c.1729C>Tp.R577CDamagingDamagingDisease-causingAD, Arrhythmogenic right ventricular dysplasia84.83Desmosome assembly
MEF2ADe novo--c.335C>Tp.P112LToleratedDamagingDisease-causingAD, Coronary artery disease32.23Mitochondrion distribution; Cardiac myofibril assembly
DCST1De novo--c.1004delGp.R335fsDamagingDamagingDisease-causing--0.7Antigen processing and display for immune responses
NPIPB6HRPaternalc.983C>Gp.P328RDamagingDamagingDisease-causing--0.12 --
Maternal
IGFN1CHPaternalc.86C>Tp.P29LDamagingDamagingDisease-causing--0.3Contractile fiber part
Maternalc.1253A>Cp.Q418PToleratedUnknownPolymorphism
DNAH6CHPaternalc.2912G>Ap.R971KDamagingDamagingPolymorphismAR, Primary ciliary dyskinesia0.08Cilium movement; Microtubule-based movement
Maternalc.3458G>Ap.R1153QToleratedDamagingDisease-causing
ITPR3CHPaternalc.1132G>Ap.D378NToleratedDamagingDisease-causingAR, Diabetes11.23Inositol phosphate-mediated signaling
Maternalc.4185C>Gp.D1395EDamagingBenignDisease-causing

Transcript IDs: JUP, NM_002230; MEF2A, NM_001130928; DCST1, NM_152494; NPIPB6, NM_001282524; IGFN1, NM_001164586; DNAH6, NM_001370; ITPR3, NM_002224. AD, autosomal dominant; AR, autosomal recessive; CH, compound heterozygous; HR, homozygous recessive; OMIM, Online Mendelian Inheritance in Man.