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Table 2 Frequency of non-synonymous single-nucleotide variations in the OXTR gene detected by re-sequencing

From: Non-synonymous single-nucleotide variations of the human oxytocin receptor gene and autism spectrum disorders: a case–control study in a Japanese population and functional analysis

dbSNP-IDa mRNAb Allele Amino acid Amino acid Number of cases
  position   position residue ASD ( n= 59) Control ( n= 30)
rs237908 19 T/G 7 S/A T/T (0) T/G (0) G/G (59) T/T (0) T/G (0) G/G (30)
rs237907 40 T/G 14 S/A T/T (0) T/G (0) G/G (59) T/T (0) T/G (0) G/G (30)
rs237906 46 T/G 16 S/A T/T (0) T/G (0) G/G (59) T/T (0) T/G (0) G/G (30)
rs189386 64 T/G 22 W/G T/T (0) T/G (0) G/G (59) T/T (0) T/G (0) G/G (30)
rs113718500 65 C/G 22 A/G C/C (0) C/G (0) G/G (59) C/C (0) C/G (0) G/G (30)
rs237903 86 T/C 29 V/A T/T (0) T/C (0) C/C (59) T/T (0) T/C (0) C/C (30)
rs171114 188 G/C 63 G/A G/G (0) G/C (0) C/C (59) G/G (0) G/C (0) C/C (30)
rs143644523 220 T/C 74 F/L T/T (0) T/C (0) C/C (59) T/T (0) T/C (0) C/C (30)
rs138770371 316 G/T 106 D/Y G/G (0) G/T (0) T/T (59) G/G (0) G/T (0) T/T (30)
rs115324487 515 C/T 172 A/V C/C (0) C/T (0) T/T (59) C/C (0) C/T (0) T/T (30)
rs150746704 616 G/C 206 V/L G/G (0) G/C (0) C/C (59) G/G (0) G/C (0) C/C (30)
rs4686302 652 A/G 218 T/A A/A (3) A/G(12) G/G (34) A/A (1) A/G(14) G/G (15)
rs143908202 661 A/G 221 S/G A/A (0) A/G (0) G/G (59) A/A (0) A/G (0) G/G (30)
rs145921539 684 T/G 228 C/W T/T (0) T/G (0) G/G (59) T/T (0) T/G (0) G/G (30)
rs184175311 700 G/A 234 E/K G/G (0) G/A (0) A/A (59) G/G (0) G/A (0) A/A (30)
rs61740241 712 A/G 238 T/A A/A (0) A/G (0) G/G (59) A/A (0) A/G (0) G/G (30)
rs151141371 755 C/G 252 A/G C/C (0) C/G (0) G/G (59) C/C (0) C/G (0) G/G (30)
rs139854982 760 T/C 254 C/R T/T (0) T/C (0) C/C (59) T/T (0) T/C (0) C/C (30)
rs144366756 764 G/T 255 G/V G/G (0) G/T (0) T/T (59) G/G (0) G/T (0) T/T (30)
rs237901 818 T/C 273 M/T T/T (0) T/C (0) C/C (59) T/T (0) T/C (0) C/C (30)
rs144814761 841 A/G 281 M/V A/A (0) A/G (0) G/G (59) A/A (0) A/G (0) G/G (30)
rs140488139 963 A/C 321 K/N A/A (0) A/C (0) C/C (59) A/A (0) A/C (0) C/C (30)
rs151257822 1001 A/G 334 D/G A/A (0) A/G (0) G/G (59) A/A (0) A/G (1) G/G (29)
rs143927655 1015 A/G 339 K/E A/A (0) A/G (0) G/G (59) A/A (0) A/G (0) G/G (30)
rs148899442 1100 G/A 367 S/N G/G (0) G/A (0) A/A (59) G/G (0) G/A (0) A/A (30)
rs144289031 1121 A/G 374 N/S A/A (0) A/G (0) G/G (59) A/A (0) A/G (0) G/G (30)
rs35062132 1126 G/C 376 G/R G/G (0) G/C (2) C/C (57) G/G (0) G/C (0) C/C (29)
rs35062132 1126 T/C 376 C/R T/T (0) T/C (0) C/C (57) T/T (0) T/C (1) C/C (29)
  1. aIDs are from dbSNP of the National Center for Biotechnology Information [40]. Bold IDs indicate the presence of allelic heterozygosity. bA of the ATG of the initial methionine is denoted nucleotide +1.