Table 3 Unsolved families carrying one pathogenic allele.

From: Panel-based NGS Reveals Novel Pathogenic Mutations in Autosomal Recessive Retinitis Pigmentosa

Splicing

Family

Gene

Nucleotide change

Protein Change

HSF

BDGP

NetGene 2

ESEFinder

1000G

EVS

ExAC

SPV

Reference

RP-1874

CNGB1

c.2634 + 6G > A

splicing defect

New cryptic acceptor site

New cryptic acceptor site

New cryptic acceptor site

loss SRp40

–

–

0.000008

–

This study

Missense

Family

Gene

Nucleotide change

Protein Change

SIFT

Polyphen

Align GVGD

Mut.Taster

phyloP

1000G

EVS

ExAC

SPV

Reference

RP-1747

EYS

c.8465A > G

p.Tyr2822Cys

Not scored

Pr.D(0.997)

Class C0

P

1.23

–

–

–

–

This study

RP-1747

USH2A

c.5612G > A

p.Gly1871Asp

D(0)

Pr.D(0.995)

Class C65

D

2.81

0.0016

–

0.0003

–

This study

  1. Abbreviations: SIFT ( D: deleterious; T: tolerated); Polyphen (Pos.D: possibly damaging; Pr.D: probably damaging; B: benign); Mutation taster (D: disease causing; P: polymorphism). Splicing prediction software: wild-type/mutant scores. Human Splice finder (HSF), Berkeley Drosophila Genome Project (BDGP), Analyzer Splice Tool (AST). EVS: Exome Variant Server. ExAC: Exome Aggregation Consortium. SPV: Spanish Population Variation Database.
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