Figure 1
From: De novo SCN2A splice site mutation in a boy with Autism spectrum disorder
A de novo SCN2A splice mutation in a participant with ASD. (A) The de novo splice mutation c.476 + 1G > A is in the donor site of intron 4, which is conserved over three transcripts of SCN2A gene. (B) cDNA sequencing in the lymphoblastoid cell lines shows both exon 3 and exon 4 were spliced out in the participant, likely resulting in a truncated short protein.