Your privacy, your choice

We use essential cookies to make sure the site can function. We also use optional cookies for advertising, personalisation of content, usage analysis, and social media.

By accepting optional cookies, you consent to the processing of your personal data - including transfers to third parties. Some third parties are outside of the European Economic Area, with varying standards of data protection.

See our privacy policy for more information on the use of your personal data.

for further information and to change your choices.
Skip to main content

Table 1 In silico analysis of identified variants in the LRTOMT gene

From: A novel pathogenic variant in the LRTOMT gene causes autosomal recessive non-syndromic hearing loss in an Iranian family

Variant/genomic

Location

Exon

Amio- acid alteration

Database

Software

SIFT

Mutation

Taster2.0

PROVEAN

PANTHER

c.509_524del

(CAGTGGCTGAAAAACT)

Frameshift mutation

(Long InDel)

6

A170Afs*20

1000 G

state

Deleterious

Disease-Causing

Deleterious

Deleterious

Not found

ExAC

Score

0.894

NA

−4.709

–

Not found

Back to article page

BMC Medical Genetics

ISSN: 1471-2350

Contact us