Table 3 List of rare mutations in genes of the “GABA system” that has been found in a homozygous state among cases or controls.

From: A novel homozygous mutation in GAD1 gene described in a schizophrenic patient impairs activity and dimerization of GAD67 enzyme

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

  1. “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.
Back to article page