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Table 1 Summary and results of previously known rare variants in NLGN3 and NLGN4 X gene

From: A sex-specific association of common variants of neuroligin genes (NLGN3 and NLGN4X) with autism spectrum disorders in a Chinese Han cohort

Gene

Sequence variant

Amino-acid change

Mutation type

Position in gene

Occurrence in ASDs/total ASDs**

Occurrence in controls/total controls**

NLGN3

c.C1351T

R451C

Missense mutation

Exon 6

0/229

0/188

NLGN4X

c.1186insT

D396X

Frameshift mutation

Exon 5

0/227

0/190

 

c.1253delAG

D429X

Frameshift mutation

Exon 5

0/229

0/190

 

c.759G > A

G99S

Missense mutation

Exon 3

0/229

0/191

 

c.1597A > G

K378R

Missense mutation

Exon 6

0/227

0/191

 

c.1671G > A

V403M

Missense mutation

Exon 6

0/229

0/191

 

c.2574C > T

R704C

Missense mutation

Exon 7

0/229

0/189

  1. **due to uncertainties, some sites were miss-identified for several samples, even by repeating.