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 |