Table 3 Mutations identified in the present study

From: Targeted Next-generation Sequencing Reveals Novel EYS Mutations in Chinese Families with Autosomal Recessive Retinitis Pigmentosa

Family ID

Variation

Exon

Bioinformatics Analysis

HGMD/Novel

Frequency in Controls

Nucleotide

Amino Acid

Type

Status

SIFT

PolyPhen

CONDEL

Proven

ARRP05

c.490C>T

p.R164*

Nonsense

Het

4

NA

NA

NA

NA

Novel

0/100

 

c.6416G>A

p.C2139Y

Missense

Het

31

D

PD

NE

DE

CM102730

0/100

ARRP06

c.7919G>A

p.W2640*

Nonsense

Het

41

NA

NA

NA

NA

CM085393

0/100

 

c.8861T>C

p.F2954S

Missense

Het

43

T

B

DE

NE

Novel

0/100

  1. Abbreviations: Het: heterozygous; NA: not available; D: damaging; PD: probably damaging; NE: neutral; DE: deleterious; T: tolerated; B: benign; HGMD: the Human Gene Mutation Database.
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