Skip to main content

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