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Figure 1 | BMC Medical Genetics

Figure 1

From: Missense mutations in Desmocollin-2 N-terminus, associated with arrhythmogenic right ventricular cardiomyopathy, affect intracellular localization of desmocollin-2 in vitro

Figure 1

a) Evolutionary conservation of the DSC2 missense mutations p.E102K and p.I345T among 7 species: H. sapiens (AAH63291.1), C. familiaris (CAA05309.1), predicted B. taurus (XP_615164.2), predicted M. mulatta (XP_001102096.1), predicted P. troglodytes (XP_512077.2), M. musculus (AAH57867.1) and R. norvegicus (NP_001028860.1). The mutated amino acids are coloured, and the identities across species are indicated by a different background. b) Pedigrees of ARVC probands carrying DSC2 mutations. Black, white, and grey symbols represent clinically affected individuals, unaffected individuals, and individuals of unknown disease status, respectively. SD indicates sudden death. Presence (*) or absence (-) of the DSC2 mutation is indicated. Arrows indicate index cases. Sequence electropherograms, on the right side of the pedigrees, show the two DSC2 missense mutations (c.304G>A (p.E102K) and c.1034T>C (p.I345T)). Numbering of the nucleotides starts at ATG and refers to GenBank Accession number NM_024422.

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BMC Medical Genetics

ISSN: 1471-2350

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