Table 1. The results of direct sequencing analyses for Autistic spectrum disorders in NR1D1.
| Base change | Amino acid change | Samples |
Inheritance | Control screening | SNP number | PolyPhen-2 analysis | Mutation Taster analysis | SIFT analysis | |
|---|---|---|---|---|---|---|---|---|---|
| Japanese | Caucasian | ||||||||
| c.58A > C | p.S20R | 1/87 | 0/108 | Father inherited | 0/133 | — | Benign | Disease causing | Damaging |
| c.1012 C > T | p.P338S | 0/87 | 2/111 | Mother inherited | 0/158 | rs143682026 | Benign | Polymorphism | Tolerated |
| c.1031 A > C | p.N344T | 0/87 | 1/111 | Mother inherited | 0/158 | rs145435357 | Benign | Disease causing | Tolerated |
| c.1499G > A | p.R500H | 0/87 | 1/107 | De novo | 0/158 | — | Probably damaging | Disease causing | Deleterious |
The patient with p.S20R mutation in NR1D1 has also c.2537 G > A (p.R846Q) mutation in SHANK2.