From: The TECTA mutation R1890C is identified as one of the causes of genetic hearing loss: a case report
Gene | Nucleotide change | Amino acid change | Depth | Conservation | Minor allele frequency | In silico analysis | ||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Mm | Gg | Xt | Dr | gnomAD_ all | gnomAD_ EAS | NBK | SIFT | Polyphen-2 | Mutation Taster | Mutation Assessor | LRT | FATHMM | RadialSVM | CADD score | ||||
TECTA | c.5668C > T | p.Arg1890Cys | 2571 | Arg | Arg | Arg | Arg | No | No | No | D (0) | D (0.963) | D (1) | D (1.385) | D (0) | D (−1.62) | D (0.383) | 19.99 |
c.4198C > T | p.His1400Tyr | 382 | His | His | His | Gln | 0.0002166 | 0.003682 | 0.00503778 | D (0) | D (0.793) | D (0.823) | N (0.62) | D (0) | D (−2.69) | D (0.372) | 22.7 |