Fig. 3.

a Pedigree of family R2072, identified in screening of the NL deafness cohort, with the rare, precipitous audiologic phenotype who also share the CLDN14 [c.488C>T; p.(Ala163Val)] variant and ancestral DFNB29-associated haplotype, b Conservation of the Claudin-14 protein using Clustal Omega and WebLogo display. Homo sapiens (NP_001139551.1), Pan paniscus (XP_008975916.1), Mus musculus (NP_001159398.1), Rattus norvegicus (NP_001013447.1), Canis lupus familiaris (XP_013965166.1), Gallus gallus (XP_015155717.1), Gekko japonicas (XP_015277878.1), Pelodiscus sinensis (XP_006126056.1), Xenopus laevis (NP_001086045.1), Danio rerio (NP_001004559.2). Red font and arrow indicate a highly conserved alanine residue at position 163, c sequence electropherograms of CLDN14 [c.488C>T; p.(Ala163Val)]. Box highlights variant, d wild-type/normal CLDN14 c.488C. Box highlights normal sequence