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. 2013 Aug 1;4:26. doi: 10.1186/2040-2392-4-26

Table 4.

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

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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