Skip to main content

Table 2 Functional predictions of the homozygous mutation of TUB in this study

From: A novel homozygous TUB mutation associated with autosomal recessive retinitis pigmentosa in a consanguineous Chinese family

Gene

Accession number

Chromosome position

Exon

Variant Type

Variant

Mutation Tastera

PROVEANb (cutoff = − 2.5)

SIFTb (cutoff = 0.05)

CADD_Phrec (cutoff = 20)

TUB

NM_003320.5

11p15.4

11

Missense Variant

c.1379A > G p.Asn460Ser

~ 1

− 4.19

0.035

24

      

Disease-causing

Deleterious

Damaging

Damaging

  1. ahttps://www.mutationtaster.org/
  2. bhttp://provean.jcvi.org
  3. chttp://cadd.gs.washington.edu