Whole-exome sequencing identified a missense mutation in WFS1 causing low-frequency hearing loss: a case report

BMC Medical Genetics

Table 2 Mutation candidates identified by whole exome sequencing

Gene Symbol	Individual	Sex	Nucleotide change^a	Amino acid change	Exon (zygosity, segregation)	Amino acid sequence conservation^b	dbSNP^c	gnomAD^d	PP2^e	MT^f	PROVEAN^g	SIFT^h
*WFS1*	30–22	F	c.2419A > C	p.Ser807Arg	8 (het, Mo)	M. musculus, G. gallus, X. tropicalis, D. rerio	ND	ND	Possibly Dam (0.890)	DC (0.999)	Del (−2.75)	Dam (0.012)

Dam damaging, DC disease causing, Del deleterious; het, heterozygous in affected individual, MAF minor allele frequency, F Female, Mo heterozygous mutation identified in mother, ND no data or DNA available, SNP single nucleotide polymorphism, D. rerio Danio rerio, G. galllus Gallus gallus, M. musculus Mus musculus, X.tropicalis Xenopus tropicalis
^aComplementary DNA (cDNA) mutations are numbered according to human cDNA reference sequence NM_006005.3 (WFS1);
^bAmino acid residue is continually conserved throughout evolution, including the species indicated;
^cdbSNP database (http://www.ncbi.nlm.nih.gov/SNP);
^dgnomAD browser (gnomad.broadinstitute.org/);
^ePolyPhen-2 (PP2) prediction score (HumVar), ranges from 0 to 1.0 (0 = benign, 1.0 = probably damaging [http://genetics.bwh.harvard.edu/pph2/]);
^fMutation taster (http://www.mutationtaster.org/);
^gProtein Variation Effect Analyzer (PROVEAN; http://provean.jcvi.org/index.php);
^hSorting Intolerant from Tolerant (SIFT; http://sift.jcvi.org/)

ISSN: 1471-2350