Table 1 Mutation screening of AANAT and ASMT.

From: Disruption of melatonin synthesis is associated with impaired 14-3-3 and miR-451 levels in patients with autism spectrum disorders

gene	variant	prediction in silico (polyphen2)	activity in vitro	population	Controls			Controls	ASD			ASD		total mutations	damaging mutations
gene	variant	prediction in silico (polyphen2)	activity in vitro	reference	Chaste 2011		this study	Meta-analysis			this study	Meta-analysis		total mutations	damaging mutations
				n =	220		145	365			431	431
AANAT	T3M	benign	reduced		0		0	0			4	4
AANAT	A13S	benign	normal		0		0	0			1	1	n(%) ASD	13(3.0%)	10(2.3%)
AANAT	R53C	probably damaging	ND		0		0	0			1	1
AANAT	V62I	benign	normal		1		0	1			1	1	n(%) controls	8(2.2%)	7(1.9%)
AANAT	R71W	probably damaging	ND		0		1	1			0	0	OR (95% CI)	1.4(0.6–3.4)	1.2(0.5–3.2)
AANAT	T110M	probably damaging	ND		0		0	0			1	1	p	0.51	0.81
AANAT	A157V	benign	normal		0		0	0			1	1
AANAT	A163V	benign	reduced		3		2	5			4	4
AANAT	G177D	probably damaging	reduced		1		0	1			0	0
				reference	Melke 2008	Pagan 2011	this study	Meta-analysis	Melke 2008	Johnson 2010	this study	Meta-analysis
				n=	255	185a	50	490	250	109	132	491
ASMT	L11F	possibly damaging	reduced		0	0	0	0	0	0	1	1
ASMT	N17K	possibly damaging	disrupted		0	0	0	0	1	0	1	2	n(%) ASD	14(2.9%)	12(2.4%)
ASMT	V46M	possibly damaging	ND		0	0	1	1	0	0	0	0
ASMT	E61Q	possibly damaging	reduced		0	1	0	1	0	0	0	0	n(%) controls	11(2.2%)	10(2.0%)
ASMT	K81E	benign	normal		0	0	0	0	1	0	0	1	OR (95% CI)	1.3(0.6–2.8)	1.2(0.5–2.8)
ASMT	splice site	damaging	ND		0	0	1	1	2	1	0	3	p	0.69	0.83
ASMT	M198R	benign	ND		0	0	0	0	0	0	1	1
ASMT	Y201X	probably damaging	ND		0	0	1	1	0	0	0	0
ASMT	D210G	probably damaging	disrupted		1	0	0	1	0	0	0	0
ASMT	K219R	benign	normal		1	0	0	1	0	0	0	0
ASMT	P243L	probably damaging	reduced		1	0	0	1	0	0	0	0
ASMT	I269M	possibly damaging	reduced		0	0	0	0	0	0	1	1
ASMT	C273S	probably damaging	reduced		1	0	0	1	0	0	1	1
ASMT	G278A	possibly damaging	reduced		0	0	0	0	1	0	0	1
ASMT	R291Q	probably damaging	disrupted		1	0	0	1	0	0	0	0
ASMT	L298F	possibly damaging	disrupted		2	0	0	2	2	0	0	2
ASMT	H318D	benign	reduced		0	0	0	0	0	0	1	1
													% ASD	5.9%	4.7%
										total (ASMT+AANAT)			% controls	4.4%	3.9%
													OR (95% CI)	1.3 (0.7–2.4)	1.2 (0.6–2.3)
													p	0.37	0.56

The missense, nonsense and splice-site variants identified in this study and in previously published sequencing studies are indicated. The frequencies of mutations observed in individuals with ASD were compared with those observed in the control groups using Fisher’s exact test.
aThe total sample size published³⁰ was n = 440 controls, and included the 255 controls previously described¹².

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Table 1 Mutation screening of AANAT and ASMT.

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