Fig. 2: Summary of the DSG2 variants found in the with ARVC. | Human Genome Variation

Fig. 2: Summary of the DSG2 variants found in the with ARVC.

From: Two pedigrees with arrhythmogenic right ventricular cardiomyopathy linked with R49H and F531C mutation in DSG2

Fig. 2

As determined using Human GRCh37/hg19, NM_001943.4:c.146G>A/p.(Arg49His) and NM_001943.3:c.1592T>G/p.(Phe531Cys) in DSG2 gene were hightly conserved across many species a. The DSG2 gene-related pathogenic or likely pathogenic missense mutations reported to date in patients with ARVC, the red ones indicate the mutations identified in the present study. Domains are exhibited with four green rectangles: Cadherin 1: Cadherin domain 165–262, Cadherin 2: Cadherin domain: 281–377, Cadherin 3: Cadherin domain: 400–490, Cadherin 4: Cadherin cytoplasmic region 778–841. The R49H variant at the head all of the domains, while F531C variant between Cadherin 3 and Cadherin 4 domain b

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