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Table 1 Probable pathogenic and uncertain pathogenic variants of OTOF identified in this study

From: OTOF mutation screening in Japanese severe to profound recessive hearing loss patients

Exon DNA level Protein level Occurrence in this work (chromosome) Control (chromosome) Functional prediction References
      PhyloP SIFT (p-value) P2 D.S. LRT Mutation taster GERP ++  
Probable pathogenic variants          
Exon 14 c.1422T>A p.Y474X 2/320 0/374 N (0.072941) NA (0.829813) NA (0.58309) D (1) A (1) −3.78 [13]
Exon 18 c.2151G>A p.W717X 1/320 0/344 C (0.994764) NA (0.90345) NA (0.734698) D (0.999998) A (1) 3.83 This study
Exon 34 c.4103C>G p.S1368X 1/320 0/364 N (0.944413) NA (0.915) NA (0.554899) NA (0.026679) A (1) 0.571 This study
Exon 38 c.4748G>A p.R1583H 1/320 0/366 C (0.997935) D (1) D (0.999) D (1) D (0.999661) 4.69 This study
Exon 44 c.5567G>A p.R1856Q 1/320 0/380 C (0.99611) T (0.91) P (0.813) D (1) D (0.999517) 4.1 [11]
Exon 46 c.5816G>A p.R1939Q 11/320 0/382 N (0.996658) T (0.92) NA (0.746672) NA (1) D (0.999886) 1.38 [22]
Uncertain pathogenic variants          
Exon 12 c.1194T>A p.D398E* 1/320 1/380 N (0.232793) T (0.77) D (0.853) D (1) D (0.995165) 0.981 [23]
Exon 13 c.1350C>G p.D450E* 1/320 1/380 C (0.986229) T (0.74) D (0.853) D (1) D (0.991594) 3.54 This study
Exon 18 c.2180A>G p.N727S* 2/320 1/344 C (0.992986) T (0.27) P (0.386) D (1) D (0.95528) 3.98 [21]
Exon 43 c.5332G>A p.V1778I 1/320 0/378 C (0.997116) T (0.54) P (0.289) D (1) D (0.994783) 4.38 This study
Exon 43 c.5408A>C p.E1803A 1/320 0/378 C (0.994555) D (1) D (0.995) D (1) D (0.999914) 4.26 This study
  1. *the variants found in controls.
  2. Exon number was named based on ENST00000403946.
  3. A, disease causing automatic; C, conserved; D, damaging or disease causing; N, not conserved; NA, not applicable; P, possibly damaging; T, tolerated; P2 D.S., Polyphen-2 damaging score. Polyphen-2, PhyloP, LRT, Mutation Taster, and GERP++ are functional prediction scores that indicate a probable mutation with increasing value.