Table 1 The Summary of 15 de novo mutations in 25 VKH trios families

From: A de novo missense mutation in MPP2 confers an increased risk of Vogt–Koyanagi–Harada disease as shown by trio-based whole-exome sequencing

GeneName

Chr

Pos

Ref

Alt

AAChange

gerp + +gt2

AXDND1

1

179497570

T

G

c.2715+4 T > G

0

ADAMTS3

4

73186589

T

C

c.946-2 A > G

6.07

TAS2R5

7

141490904

C

A

c.C743A:p.P248H

3.37

CA9

9

35675792

C

A

c.C468A:p.C156X

2.24

SIK3

11

116728777

G

A

c.C3080T:p.P1027L

3.64

PTPN11

12

112924295

C

T

c.C1253T:p.T418M

4.26

ARHGAP5

14

32561439

C

G

c.C1564G:p.L522V

0

RYR3

15

33893642

T

C

c.T1811C:p.L604P

4.68

RPAP1

15

41823223

G

A

c.C941T:p.P314L

5.36

HAS3

16

69143434

G

A

c.G136A:p.G46S

5.6

MPP2

17

41958658

C

A

c.G945T:p.K315N

0

KCTD1

18

24056619

C

T

c.G169A:p.G57R

5.63

ZNF236

18

74607146

A

G

c.A1595G:p.K532R

5.48

DNMT3L

21

45670810

G

A

c.C792T:p.H264H

2.87

PLXNA3

X

153695441

C

T

c.C3149T:p.T1050M

5.8

  1. Chr Chromosome, Ref Reference, Alt Alternative, AAChange Amino Acid Change, gerp genomic evolutionary rate profiling
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