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 |