Population sequencing of two endocannabinoid metabolic genes identifies rare and common regulatory variants associated with extreme obesity and metabolite level

Table 1 Coding sequence variants in the two genes and SIFT analysis

Coordinate	Alleles	Gene	Codon change^a	Amino acid change	dbSNP	Coding type	SIFT prediction	SIFT score	MAF	Number observed
Chr1_46643348	C/A	FAAH	CCA-aCA	P129T	rs324420	Non-synonymous	Tolerated	0.46	0.216	123
Chr1_46643944	G/A	FAAH	GGG-aGG	G226R	Novel	Non-synonymous	Tolerated	0.15	0.002	1
Chr1_46643960	C/T	FAAH	CCC-CtC	P231L	Novel	Non-synonymous	Tolerated	0.63	0.002	1
Chr1_46643996	G/A	FAAH	CGC-CaC	R243H	Novel	Non-synonymous	Damaging	0	0.003	2
Chr1_46644333	G/A	FAAH	GAG-GAa	E274E	Novel	Synonymous	Tolerated	0.96	0.052	30
Chr1_46644573	T/C	FAAH	TGT-TGc	C299C	rs324419	Synonymous	Tolerated	1	0.176	101
Chr1_46646834	G/A	FAAH	GCG-GCa	A356A	rs45476901	Synonymous	Tolerated	1	0.002	1
Chr3_128893754	C/T	MGLL	GCA-aCA	A307T	Novel	Non-synonymous	Tolerated	0.55	0.003	2
Chr3_128893854	A/C	MGLL	ATT-ATg	I273M	Novel	Non-synonymous	Tolerated	0.13	0.002	1
Chr3_128896571	T/C	MGLL	CTA-CTg	L251L	rs4881	Synonymous	Tolerated	1	0.073	42
Chr3_128922669	C/T	MGLL	GCA-aCA	A143T	Novel	Non-synonymous	Tolerated	0.36	0.002	1
Chr3_128983328	C/T	MGLL	GAC-aAC	D86N	Novel	Non-synonymous	Damaging	0	0.002	1
Chr3_129023325	C/T	MGLL	CGG-CGa	R19R	rs11538698	Synonymous	Tolerated	0.86	0.052	30
Chr3_129023335	G/A	MGLL	TCC-TtC	S16F	Novel	Non-synonymous	Damaging	0.01	0.002	1

ISSN: 1474-760X