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Table 1 Mutational profiles of TECTA variants detected in the proband

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

  1. Abbreviations: Arg (R) arginine, CADD combined annotation-dependent depletion, Cys (C) cysteine, D deleterious or damaging prediction results, Dr. Danio rerio, EAS east Asian, Gg Gallus gallus, Gln (Q) glutamine, His (H) histidine, LRT likelihood ratio test, Mm Mus musculus, N neutral or non-deleterious prediction results, NBK national biobank of Korea, Polyphen-2 polymorphism phenotyping v2, RadialSVM radial support vector machine, SIFT sorting tolerant from intolerant, Tyr (Y) tyrosine, Xt Xenopus tropicalis