Table 2.
Unique Nonsynonymous Variants Identified in ASD Cases and Controls
| Varianta | Race/Ethnicity | Predicted Deleteriousb | Conservedc |
|---|---|---|---|
| ASD (n = 635) | |||
| N407Sd | white | N | N |
| N418D | white-Hispanic | N | N |
| Y716C | white | N | N |
| G731Se,f | more than one (Asian)f | N | Y |
| I869Te | white | Y, S | Y |
| I869Td,e | white | Y, S | Y |
| I869Te | white | Y, S | Y |
| R906H | white | N | N |
| R1119He | white | Y, P&S | Y |
| D1129He | white-Hispanic | Y, P&S | Y |
| A1227T | white | N | N |
| I1253Te | white-Hispanic | Y, S | N |
| T1278Ie | white | Y, P&S | N |
| Controls (n = 942) | |||
| R114Q | white-Hispanic | N | N |
| T218Me | white | Y, P&S | Y |
| L226Me | white | Y, S | Y |
| R283Ce,g | white | Y, P&S | Y |
| S382Ne | white-Hispanic | Y, S | Y |
| E680Ke | white | Y, P&S | Y |
| P699Qe | white-Hispanic | N | Y |
| G779D | Asian | N | N |
| D1038N | white | N | N |
| V1102A | white | N | N |
| S1114G | white | N | N |
a
Amino acid changes found only in cases (top of table) or only in controls (bottom of table).
b
P, PolyPhen; S, SIFT.
c
Amino acids were considered conserved if all sequences were identical or only conserved substitutions were seen.
d
N407S/I869T were found in one proband on opposite chromosomes.
e
Variants predicted to be deleterious or conserved.
f
Parental DNA was sequenced and the suspect variant was determined to derive from the father who was Asian.
g
Variant failed genotyping.