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Table 2 Mutation candidates identified by whole exome sequencing

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

Gene Symbol Individual Sex Nucleotide changea Amino acid change Exon (zygosity, segregation) Amino acid sequence conservationb dbSNPc gnomADd PP2e MTf PROVEANg SIFTh
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)
  1. 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
  2. aComplementary DNA (cDNA) mutations are numbered according to human cDNA reference sequence NM_006005.3 (WFS1);
  3. bAmino acid residue is continually conserved throughout evolution, including the species indicated;
  4. cdbSNP database (http://www.ncbi.nlm.nih.gov/SNP);
  5. dgnomAD browser (gnomad.broadinstitute.org/);
  6. ePolyPhen-2 (PP2) prediction score (HumVar), ranges from 0 to 1.0 (0 = benign, 1.0 = probably damaging [http://genetics.bwh.harvard.edu/pph2/]);
  7. fMutation taster (http://www.mutationtaster.org/);
  8. gProtein Variation Effect Analyzer (PROVEAN; http://provean.jcvi.org/index.php);
  9. hSorting Intolerant from Tolerant (SIFT; http://sift.jcvi.org/)