Rare coding variants of the adenosine A3 receptor are increased in autism: on the trail of the serotonin transporter regulome

Campbell, Nicholas G; Zhu, Chong-Bin; Lindler, Kathryn M; Yaspan, Brian L; Kistner-Griffin, Emily; Hewlett, William A; Tate, Christopher G; Blakely, Randy D; Sutcliffe, James S

doi:10.1186/2040-2392-4-28

Molecular Autism

Table 1 Sanger sequencing discovery of variation at ADORA3

From: Rare coding variants of the adenosine A3 receptor are increased in autism: on the trail of the serotonin transporter regulome

				Unrelated probands		Caucasian controls		African-American controls
SNP ID	HGVS^a	mRNA position^b(NM_000677.3)	mRNA location^c	Chromosomes^d	MAF^e	Chromosomes^d	MAF^e	Chromosomes^d	MAF^e
rs10776728	c.108-13736A>T		-376	105/370	0.284	178/562	0.317	17/48	0.354
rs140137165	c.108-13682G>C		-322	0/370	0.000	0/562	0.000	2/48	0.042
	c.108-13643G>T		-283	0/370	0.000	1/562	0.002	0/48	0.000
rs10776727	c.108-13642G>T		-282	164/370	0.443	251/562	0.447	13/48	0.271
rs114241928	c.108-13599C>G		-239	0/370	0.000	0/562	0.000	2/48	0.042
	c.108-13532C>T		-172	1/370	0.003	0/562	0.000	0/48	0.000
	c.108-13371C>T		-11	0/370	0.000	2/562	0.004	0/48	0.000
	c.-724G>A	44	5'UTR	1/370	0.003	1/562	0.002	0/48	0.000
rs1544223	c.-581G>A	187	5'UTR	71/370	0.192	119/562	0.212	11/48	0.229
rs1544224	c.-564 T>C	204	5'UTR	73/370	0.197	130/562	0.231	11/48	0.229
	c.-563G>A	205	5'UTR	0/370	0.000	1/562	0.002	0/48	0.000
	c.-479A>G	289	5'UTR	0/370	0.000	1/562	0.002	0/48	0.000
rs41282522	c.-221G>C	547	5'UTR	52/370	0.141	81/562	0.144	6/48	0.125
rs41282520	c.-105A>C	663	5'UTR	1/370	0.003	4/562	0.007	0/48	0.000
	c.-85G>A	683	5'UTR	0/370	0.000	1/562	0.002	0/48	0.000
rs35789323	c.265C>T	1,032	Leu89Leu	1/370	0.003	0/562	0.000	0/48	0.000
rs77883500	c.268C>G	1,035	Leu90Val	3/370	0.008	0/562	0.000	0/48	0.000
rs76934313	c.345C>T	1,112	Thr115Thr	2/370	0.006	3/562	0.005	0/48	0.000
rs2789537	c.390C>T	1,157	Ala130Ala	6/370	0.016	5/562	0.009	1/48	0.021
rs139935750	c.511G>A	1,278	Val171Ile	3/370	0.008	0/562	0.000	0/48	0.000
	c.582C>T	1,349	Cys194Cys	1/370	0.003	1/562	0.002	0/48	0.000
rs143962803	c.583G>A	1,350	Ala195Thr	0/370	0.000	1/562	0.002	0/48	0.000
rs35511654	c.742A>C	1,509	Ile248Leu	54/370	0.146	84/562	0.158	6/48	0.125
rs2800889	c.797 T>A	1,564	Met266Lys	6/370	0.016	5/562	0.009	1/48	0.021
rs2229155	c.897 T>C	1,664	Ala299Ala	52/370	0.154	100/562	0.178	9/48	0.188
	c.*97C>A	1,821	3'UTR	0/370	0.000	1/562	0.002	0/48	0.000
rs923	c.*189C>T	1,913	3'UTR	51/370	0.149	100/562	0.178	9/48	0.188
rs1415793	c.*336C>T	2,060	3'UTR	51/370	0.149	100/562	0.178	9/48	0.188
rs75048140	c.*350A>G	2,074	3'UTR	2/370	0.005	0/562	0.000	0/48	0.000
rs1415792	c.*377A>G	2,101	3'UTR	50/370	0.146	100/562	0.178	9/48	0.188
	c.*409C>T	2,133	3'UTR	0/370	0.000	1/562	0.002	0/48	0.000
rs3393	c.*423G>A	2,147	3'UTR	123/370	0.435	258/562	0.459	9/48	0.188
rs3394	c.*441A>G	2,165	3'UTR	51/370	0.149	99/562	0.176	9/48	0.188

^aHuman Genome Variation Society (HGVS) recommended nomenclature. * Indicates substitution 3’ of termination codon.
^bIndicates base-pair position within mRNA strucutre. RefSeq Accession number is given in parenthesis.
^cIndicates location within mRNA structure (Exon). Negative (-) numbers indicate base pair position 5' to mRNA. Amino acid substitutions are shown relative to protein position.
^dIndicates the number of minor allele counts over the total number of chromosomes sequenced.
^eMAF indicates minor allele frequency.

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ISSN: 2040-2392

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