Table 2 Three candidate mutations with minor allele frequencies less than 0.001 in control samples in the 3of the 98 small Han Chinese families with RP.

From: Mutation screening in genes known to be responsible for Retinitis Pigmentosa in 98 Small Han Chinese Families

Gene

Inheritance model

Sample

Mutation

Change

PROVEAN

SIFT

Polyphon-2

Allele Count in 2020 controls

Allele Count in 1000 Genomes Phase III

Allele Count in ExACdatabase

Allele Count East Asian

Allele Number East Asian

PRPF4

sporadic

RP-145

c.1541C > T:p.Thr514Ile

Nonsynonymous

Deleterious

Damaging

Probably damaging

2

0

0

0

8640

RDH12

sporadic

RP-050

c.940C > T:p.Arg314Trp

Nonsynonymous

Deleterious

Damaging

Probably damaging

2

0

2

0

8612

RDH12

sporadic

RP-060

c.437T > A:p.Val146Asp

Nonsynonymous

Deleterious

Damaging

Probably damaging

2

0

0

0

8612

  1. The mutations were filtered with the following multiple-step bioinformatics analysis: 1) the SNPs and short indels in the exome region were filtered against data from 1000 genome, dbSNP135-common, ExAC and unrelated individuals of 2020 in-house non-RP controls, removing minor allele frequency (MAF) values that were greater than 0.001; 2) excluded non-coding variants without altering splicing sites; 3) excluded the synonymous variants without altering splicing sites in the genes; 4) excluded missense variants predicted to be Neutral/Tolerated /Benign by PROVEAN, SIFT and Polyphen-2.
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