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Clinical and genetic information relevant to the KNUF25 (a) and SY-149 (b) families with the p.T1188A mutation of the <i>TJP2</i> gene.

By Min-A Kim (585107), Ye-Ri Kim (585108), Borum Sagong (384706), Hyun-Ju Cho (10656), Jae Woong Bae (145275), Jeongho Kim (136982), Jinwook Lee (585109), Hong-Joon Park (145284), Jae Young Choi (145281), Kyu-Yup Lee (384712) and Un-Kyung Kim (145294)

Abstract

<p>(A) The top panel shows the pedigree and genotype of each family. The arrows indicate the proband (KNUF25 II-1, YS-149 II-6), and filled symbols represent affected individuals from these families. The asterisks denote individuals screened in this study. The bottom panel shows pure tone audiograms of affected individuals (KNUF25 II-1, KNUF25 I-2, YS-149 II-6). The red (circles) and black (crosses) lines represent unmasked air conduction thresholds for the right and left ears, respectively. (B) The top panel shows partial DNA sequences of the <i>TJP2</i> gene with the genotypes of affected and unaffected individuals within the family. The position of a changed nucleotide is indicated by a square. The bottom panel indicates the evolutionary conservation of amino acids, including threonine 1188, in vertebrate species. The arrow and box designate the location of the mutation.</p

Topics: Biological Sciences, genetics, Genetics of disease, Human genetics, knuf25, sy-149, mutation
Year: 2014
DOI identifier: 10.1371/journal.pone.0095646.g003
OAI identifier: oai:figshare.com:article/1073944
Provided by: FigShare
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