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Table 4 Unique nonsynonymous variants of the DLGAP2 gene identified in ASD patients and controls and their functional predictions

From: Deep exon resequencing of DLGAP2 as a candidate gene of autism spectrum disorders

Location

  

In silico analysis

    
 

Nucleotide position

Variants

PolyPhen-2

SIFT

Autism

Control

rs2906569

rs2301963

exon2

c.44 C > T

S15F

probably damaging

affect protein function

U1974

 

A/A

C/A

c.277 C > A

R93S

probably damaging

tolerated

U1843

 

A/G

C/A

c.545 G > A

R182Q

probably damaging

tolerated

U173

 

A/G

C/A

c.574 G > T

A192S

benign

tolerated

U396

 

A/A

C/C

c.797 G > T

V234L

benign

tolerated

 

ZN4215

G/G

C/C

c.797 G > T

V234L

benign

tolerated

 

HN616

A/A

C/A

c.841 C > G

P281A

probably damaging

tolerated

U323

 

A/G

C/A

c.841 C > G

P281A

probably damaging

tolerated

U1519

 

G/G

A/A

c.841 C > G

P281A

probably damaging

tolerated

U1988

 

G/G

C/A

c.841 C > G

P281A

probably damaging

tolerated

 

ZN4014

A/G

missing

c.841 C > G

P281A

probably damaging

tolerated

 

HN449

A/G

C/A

c.841 C > G

P281A

probably damaging

tolerated

 

HN581

A/G

C/A

c.970 A > T

R324W

probably damaging

affect protein function

U1803

 

A/A

C/A

exon4

c.1262 C > T

A421V

benign

tolerated

 

ZN4205

G/G

A/A

exon5

c.1516 T > C

C506R

probably damaging

affect protein function

U1247

 

missing

C/A

exon9

c.2135 C > T

T712M

benign

tolerated

U2096

 

G/G

C/A

 

c.2135 C > T

T712M

benign

tolerated

 

HN576

missing

C/A

 

c.2135 C > T

T712M

benign

tolerated

 

HN278

A/A

C/A

 

c.2311 C > G

P771A

benign

tolerated

 

ZN4182

A/A

C/C

 

c.2386 C > G

H796D

probably damaging

affect protein function

 

ZN4053

A/G

C/A

 

c.2392 G > C

E798Q

probably damaging

affect protein function

U1082

 

A/A

C/C

exon11

c.2650 G > A

D884N

benign

tolerated

 

HN526

G/G

C/A

 

c.2676 C > A

N892K

possibly damaging

affect protein function

 

ZN4107

missing

missing

exon12

c.2750 C > T

P917L

benign

tolerated

U1000

 

A/G

C/A

 

c.2750 C > T

P917L

benign (0.002)

tolerated

U2098

 

G/G

C/A

 

c.2750 C > T

P917L

benign (0.002)

tolerated

 

HN444

A/A

C/C

PolyPhen-2

autism

control

P (Fisher’s test)

SIFT

autism

control

P (Fisher’s test)

 

damaging

9

5

0.12

functional

4

2

0.32

 

benign

4

8

 

tolerated

9

11

  
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Molecular Autism

ISSN: 2040-2392