Table 3.
List of rare mutations in genes of the “GABA system” that has been found in a homozygous state among cases or controls.
| Genomic | A/U | Gene | Mutation class | cDNA | Aa change |
Dataset MAF (N. individuals) |
Population MAF | CADD |
|---|---|---|---|---|---|---|---|---|
| chr2:25044490 T > G | 1/0 | ADCY3 | missense | NM_004036:c.3555 A > C | E1008A | 7.46E-04 (10,055) |
2.55E-04 | 20.5 |
| chr5:170236670 G > A | 1/0 | GABRP | missense | NM_014211:c.1128 G > A | G311R | 2.98E-04 (10,058) |
9.01E-05 | 32 |
| chr8:131880120 C > G | 1/0 | ADCY8 | missense | NM_001115:c.2182 G > C | A728P | 9.94E-05 (10,056) |
1.00E-03 | 18.29 |
| chr11:122929541 T > C | 1/0 | HSPA8 | Splice junction | NM_153201:c.1601-3 A > G | 9.94E-04 (10,055) |
3.33E-04 | 0.66 | |
| chr16:76532538 G > A | 1/0 | CNTNAP4 | missense | NM_033401:c.2311 G > A | R770Q | 2.50E-04 (9,986) |
7.52E-05 | 21.7 |
| Chr17:39881003 C > T | 1/0 | HAP1 | missense | NM_177977:c.1810G > A | G604R | 1.49E-04 (10,059) |
5.22E-02 | 0.03 |
“Dataset MAF” refers to minor allele frequency in the Sweden dataset after filtering, while “Population MAF” refers to the maximum values reported in human populations from ExAC, ESP and 1000 G. A/U: Number of Affected/Unaffected subjects with mutations in a homozygous state. Splice junction refers to variants located in the 3 bp at exon/intron boundaries.