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Table 2 Identified pathogenic variants in USH2A gene in this study and their prediction results from the analysis programs

From: Mutation screening of the USH2A gene reveals two novel pathogenic variants in Chinese patients causing simplex usher syndrome 2

Patient number

Exon/Intron

Nucleotide change

Amino acid change

Type

MutationTaster

SIFT

PROVEAN

PolyPhen-2

HSF

Ref.

001

IVS42

c.8559-2A > G

Heterozygous

Disease causing

Potential alteration of splicing

[17]

002

EX19

c.4217C > A

p.Ser1406X

Heterozygous

Disease causing

Damaging

Deleterious

Novel

002

EX61

c.11780A > G

p.Asp3927Gly

Heterozygous

Disease causing

Tolerated

Deleterious

Probably damaging (Score 0.911)

Novel

003

IVS58

c.11389 + 3A > T

Heterozygous

Disease causing

Potential alteration of splicing

SCV000579424.1

004

EX42

c.8232G > C

p.Trp2744Cys

Heterozygous

Disease causing

Damaging

Deleterious

Probably damaging(Score 1.000)

[18]

004

IVS42

c.8559-2A > G

Heterozygous

Disease causing

Potential alteration of splicing

[17]