. Author manuscript; available in PMC: 2013 Aug 1.

Published in final edited form as: J Hum Genet. 2012 Dec 13;58(2):102–108. doi: 10.1038/jhg.2012.143

Table 1. CLDN14 variants in Pakistani families segregating DFNB29 hearing loss^#.

Family	Ethnicity	Haplotype			Nucleotide variation	Predicted effect	SIFT	Polyphen 2	Mutation Taster	Reference
		*D21S2078*	*D21S1252*	*D21S2080*

PKSR9a	Punjabi	152	244	174	c.254T>A	p.Val85Asp	Deleterious	Damaging	Disease causing	[1]
PKDF001	Punjabi	152	244	174	c.254T>A	p.Val85Asp				this study
PKDF009	Punjabi	152	244	174	c.254T>A	p.Val85Asp				[25]
PKDF048	Punjabi	152	244	174	c.254T>A	p.Val85Asp				this study
PKDF050	Punjabi	152	244	174	c.254T>A	p.Val85Asp				this study
PKDF108	Punjabi	152	244	174	c.254T>A	p.Val85Asp				this study
PKDF242	Punjabi	152	244	174	c.254T>A	p.Val85Asp				this study
PKDF307	Punjabi	152	244	174	c.254T>A	p.Val85Asp				this study
PKDF505	Punjabi	156	244	166	c.254T>A	p.Val85Asp				this study
PKDF704	Punjabi	152	244	174	c.254T>A	p.Val85Asp				this study
PKDF797	Punjabi	152	244	174	c.254T>A	p.Val85Asp				this study
PKDF821	Punjabi	152	244	174	c.254T>A	p.Val85Asp				this study
PKDF1277	Balochi	154	234	166	c.242G>A	p.Arg81His				[2]; this study
PKDF1092	Punjabi	154	246	166	c.398delT	p.Met133ArgfsX23	Deleterious	Damaging	Disease causing	this study
PKSN6	Punjabi	154	246	166	c.398delT	p.Met133ArgfsX23				[1]
PKDF361	Sindhi	156	246	166	c.256A>G	p.Ile86Val	Tolerated	Benign	Polymorphism	this study
					c.259_260TC>AT	p.Ser87Ile	Deleterious	Damaging	Disease causing	this study
PKDF315	Punjabi	154	288	172	c.281C>T	p.Ala94Val	Deleterious	Damaging	Disease causing	this study
PKDF488	Punjabi	154	228	172	c.281C>T	p.Ala94Val				this study

All variants were found in the homozygous state, and previously unreported variants are shown in bold.

Table 1. CLDN14 variants in Pakistani families segregating DFNB29 hearing loss#.