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. 2014 Dec 8;8:394. doi: 10.3389/fnins.2014.00394

Table 2.

Known mutations in ASD for excitatory and inhibitory genes.

Gene type Symbol Mutation (residue or genome coordinates, hg18) Damaging? Condition Reference
Excitatory ELFN1 chr7:1754k-1774k Loss, exonic Autism SFARI, Prasad et al., 2012
Excitatory GRIK2 chr6:101961k-102006k Gain, intronic Autism SFARI, Prasad et al., 2012
Excitatory GRIK2 chr6:102425k-102437k Loss, intronic Autism SFARI, Prasad et al., 2012
Excitatory NRXN1 chr2:50722k-50730k Loss, exonic Autism SFARI, Prasad et al., 2012
Excitatory NRXN1 chr2:50708k-50721k Loss, exonic Autism SFARI, Prasad et al., 2012
Excitatory NRXN1 chr2:50421k-50908k Loss, exonic Autism SFARI, Prasad et al., 2012
Excitatory NRXN1 chr2:50722k-50730k Loss, intronic Autism SFARI, Prasad et al., 2012
Excitatory NRXN1 chr2:50913k-50958k Loss, intronic Autism SFARI, Prasad et al., 2012
Excitatory NRXN1 chr2:51045k-51127k Loss, exonic Autism SFARI, Prasad et al., 2012
Excitatory RELN p.Q417* Nonsense Autism Neale et al., 2012
Excitatory SLC6A1 p.A288V Missense Autism Sanders et al., 2012
Excitatory STXBP1 p.R551C Missense Autism Neale et al., 2012
Inhibitory CEP112 chr:1761133k-61139k Loss, intronic autism SFARI, Prasad et al., 2012
Inhibitory GAD1 - Silent Autism O'Roak et al., 2012
Inhibitory MTMR2 p.N283D Damaging Autism Sanders et al., 2012
Inhibitory NF1 p.H2459N Missense predicted tolerated, benign Autism Sanders et al., 2012
Inhibitory NF1 p.A2644V Missense, predicted probably damaging Control Sanders et al., 2012
Inhibitory NF1 chr17:26493k-26507k Loss, exonic Autism SFARI, Prasad et al., 2012