Table 5.
Coding changes observed in family members II-3, III-4 and III-6 from sequence analysis of genes CNTN1, FOXJ2, GRIN2B, NAB2, NELL2 and SRGAP1
| Gene | Exon | Base Change | rs number | Major allele freq | Effect on protein | Individuals with change |
|---|---|---|---|---|---|---|
| SRGAP1 | 18 | c.2330hetT→C | rs789722 | C/0.583 | TCT→TCC p.758S | III-4, III-6 |
| CNTN1 | 9 | c.1127T→C | rs935105 | T/0.842 | AAT>AAC p.338N | II-3 |
| 12 | c.1529hetC→T | rs1056019 | T/0.686 | AAC>AAT p.472N | II-3, III-4, III-6 |
Base numbering from cDNA. All reference sequences obtained from UCSC Build 36.1. rs number and allele frequency obtained from the HapMap project.