BioMed Research International / 2019 / Article / Tab 1 / 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.
Gene Inheritance Transcript Variant Protein Variant SIFT PolyPhen-2 MutationTaster OMIM Clinical Phenotype GTEx (expression in heart) ToppGene Function JUP De novo - - c.1729C>T p.R577C Damaging Damaging Disease-causing AD, Arrhythmogenic right ventricular dysplasia 84.83 Desmosome assembly MEF2A De novo - - c.335C>T p.P112L Tolerated Damaging Disease-causing AD, Coronary artery disease 32.23 Mitochondrion distribution; Cardiac myofibril assembly DCST1 De novo - - c.1004delG p.R335fs Damaging Damaging Disease-causing - - 0.7 Antigen processing and display for immune responses NPIPB6 HR Paternal c.983C>G p.P328R Damaging Damaging Disease-causing - - 0.12 - - Maternal IGFN1 CH Paternal c.86C>T p.P29L Damaging Damaging Disease-causing - - 0.3 Contractile fiber part Maternal c.1253A>C p.Q418P Tolerated Unknown Polymorphism DNAH6 CH Paternal c.2912G>A p.R971K Damaging Damaging Polymorphism AR, Primary ciliary dyskinesia 0.08 Cilium movement; Microtubule-based movement Maternal c.3458G>A p.R1153Q Tolerated Damaging Disease-causing ITPR3 CH Paternal c.1132G>A p.D378N Tolerated Damaging Disease-causing AR, Diabetes 11.23 Inositol phosphate-mediated signaling Maternal c.4185C>G p.D1395E Damaging Benign Disease-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.