From: Deep exon resequencing of DLGAP2 as a candidate gene of autism spectrum disorders
Location | Â | Â | In silico analysis | Â | Â | Â | Â | |
---|---|---|---|---|---|---|---|---|
 | Nucleotide position | Variants | PolyPhen-2 | SIFT | Autism | Control | rs2906569 | rs2301963 |
exon2 | c.44 C > T | S15F | probably damaging | affect protein function | U1974 | Â | A/A | C/A |
c.277 C > A | R93S | probably damaging | tolerated | U1843 | Â | A/G | C/A | |
c.545 G > A | R182Q | probably damaging | tolerated | U173 | Â | A/G | C/A | |
c.574 G > T | A192S | benign | tolerated | U396 | Â | A/A | C/C | |
c.797 G > T | V234L | benign | tolerated | Â | ZN4215 | G/G | C/C | |
c.797 G > T | V234L | benign | tolerated | Â | HN616 | A/A | C/A | |
c.841 C > G | P281A | probably damaging | tolerated | U323 | Â | A/G | C/A | |
c.841 C > G | P281A | probably damaging | tolerated | U1519 | Â | G/G | A/A | |
c.841 C > G | P281A | probably damaging | tolerated | U1988 | Â | G/G | C/A | |
c.841 C > G | P281A | probably damaging | tolerated | Â | ZN4014 | A/G | missing | |
c.841 C > G | P281A | probably damaging | tolerated | Â | HN449 | A/G | C/A | |
c.841 C > G | P281A | probably damaging | tolerated | Â | HN581 | A/G | C/A | |
c.970 A > T | R324W | probably damaging | affect protein function | U1803 | Â | A/A | C/A | |
exon4 | c.1262 C > T | A421V | benign | tolerated | Â | ZN4205 | G/G | A/A |
exon5 | c.1516 T > C | C506R | probably damaging | affect protein function | U1247 | Â | missing | C/A |
exon9 | c.2135 C > T | T712M | benign | tolerated | U2096 | Â | 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 | Â | 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 | Â | 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 | Â |
benign | 4 | 8 | Â | tolerated | 9 | 11 | Â | Â |