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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 HGVSa mRNA positionb(NM_000677.3) mRNA locationc Chromosomesd MAFe Chromosomesd MAFe Chromosomesd MAFe
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
  1. aHuman Genome Variation Society (HGVS) recommended nomenclature. * Indicates substitution 3’ of termination codon.
  2. bIndicates base-pair position within mRNA strucutre. RefSeq Accession number is given in parenthesis.
  3. cIndicates location within mRNA structure (Exon). Negative (-) numbers indicate base pair position 5' to mRNA. Amino acid substitutions are shown relative to protein position.
  4. dIndicates the number of minor allele counts over the total number of chromosomes sequenced.
  5. eMAF indicates minor allele frequency.
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