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. Author manuscript; available in PMC: 2014 Dec 23.
Published in final edited form as: Circ Arrhythm Electrophysiol. 2012 Jan 13;5(1):163–172. doi: 10.1161/CIRCEP.111.967604

Figure 1.

Figure 1

GJA5 mutation identified in a family with the clinical diagnosis of PFHB1. A: Family pedigree. Genetically affected and unaffected individuals shown with closed and open symbols, respectively. Hatched circle: Proband's mother not genotyped; clinical data suggest she was a de novo mutation carrier. Number below each symbol: age at registration or age of sudden death (parenthesis). B: Sequence electropherogram of exon 2 GJA5 of proband. Arrow indicates heterozygous missense mutation of leucine (CTG) for glutamine-58 (CAG). C: Cx40 predicted membrane topology indicating position Q58 in first extracellular loop. D: Sequence alignment of human Cx40 and its homologues (residues 45-70). Notice also conservation in human Cx43 and Cx45. Dashes indicate residues identical with the top sequence.