Table 4 of
Ando, Mol Vis 2007;
13:1038-1044.Table 4 of
Ando, Mol Vis 2007;
13:1038-1044.
Table 4. Nucleotide sequence variations observed in the rhodopsin gene locus
The amino acid substitution caused by nucleotide substitution was represented in parenthesis. Individual SNPs were characterized in 68 patients (RP) and 68 controls (Ctl). A database of Japanese single nucleotide polymorphisms (JSNP) contains nine SNPs that were measured in 732-746 Japanese subjects.
Minor allele frequency (%)
Marker SNP Alleles --------------------------
name name Region Amplicon Position major/minor dbSNP ID RP Ctl Sum JSNP JSNP ID
------- ----- -------- -------- --------- -------------- ----------- ---- ---- ---- ----- -------------
SV01 SNP01 Upstream A2 -1163 C/T rs2625954 42.6 41.9 42.3 - -
SV02 SNP02 Upstream A2 -778 A/C rs2625955 41.9 41.9 41.9 42.0 IMS-JST108944
SV03 - Upstream A2 -598 G/A - 0.7 0.0 0.4 - -
SV04 SNP03 Exon 1 A2, A3 -51 G/A rs2269736 33.8 28.7 31.3 33.2 IMS-JST024023
SV05 SNP04 Exon 1 A2, A3 -26 G/A rs7984 43.4 41.2 42.3 41.2 IMS-JST024024
SV06 - Exon 1 A2, A3 124 G/A(Ala42Thr) - 0.0 0.7 0.4 - -
SV07 - Exon 1 A3 273 C/T(Phe91Phe) - 0.7 0.0 0.4 - -
SV08 - Exon 1 A3 315 C/T(Phe105Phe) - 0.7 0.0 0.4 - -
SV09 SNP05 Intron 1 A3 668 A/G - 5.9 3.7 4.8 - -
SV10 SNP06 Intron 1 A3 709 C/T - 5.9 5.1 5.5 - -
SV11 - Intron 1 A3 794 G/A - 0.0 0.7 0.4 - -
SV12 - Intron 1 A3 966 C/T - 0.7 0.0 0.4 - -
SV13 SNP07 Intron 1 A3 1349 T/G rs2855552 29.4 30.1 29.8 28.3 IMS-JST130259
SV14 - Intron 1 A3 1354 C/T - 1.5 1.5 1.5 - -
- - Intron 1 - 1535 G/A rs2855553 - - - - -
SV15 - Intron 1 A3 1751-1760 AGGATGCATT/del - 22.1 19.1 20.6 - -
SV16 - Intron 1 A3 1775-1835 (CA)nA(CA)m - - - - - -
SV17 SNP08 Intron 2 A4 2703 G/T rs6803468 0.7 3.7 2.2 - -
SV18 SNP09 Intron 2 A4 2718 C/T - 5.9 5.1 5.5 - -
SV19 SNP10 Intron 2 A4 2750 G/A rs6803484 0.7 3.7 2.2 - -
- - Intron 2 - 2760 A/T rs2855556 - - - - -
SV20 - Intron 2 A4 2753 A/G - 0.0 0.7 0.4 - -
SV21 - Intron 2 A4 2787 G/A - 1.5 0.0 0.8 - -
SV22 SNP11 Intron 2 A4 2990 G/A - 22.1 19.9 21.0 - -
SV23 SNP12 Intron 2 A4 3217 C/T - 5.9 5.1 5.5 - -
SV24 - Intron 2 A4 3269 C/T - 0.7 0.0 0.4 - -
SV25 - Intron 2 A4 3397 G/A - 0.7 0.7 0.7 - -
SV26 SNP13 Intron 3 A4 3687 C/T - 5.9 5.1 5.5 - -
SV27 - Exon 4 A4, A5 3994 C/T(Ser297Ser) - 1.5 1.5 1.5 - -
SV28 - Intron 4 A4, A5 4056 G/T - 1.5 0.0 0.8 - -
SV29 SNP14 Intron 4 A4, A5 4346 T/A rs2855557 41.9 42.6 42.3 - -
- - Intron 4 - 4730 T/A rs2625964 - - - - -
SV30 SNP15 Intron 4 A5 4852 G/A rs2071092 29.4 30.1 29.8 28.8 IMS-JST006396
SV31 SNP16 Exon 5 A5 5028 C/A rs2071093 5.9 5.1 5.5 4.3 IMS-JST006397
SV32 - Exon 5 A5, A6 5216 C/T - 0.7 0.0 0.4 - -
SV33 SNP17 Exon 5 A5, A6 5217 G/A rs2410 48.5 49.3 48.9 - -
SV34 - Exon 5 A5, A6 5426 G/A - 0.7 0.7 0.7 - -
- - Exon 5 - 5833 A/G rs2625969 - - - - -
SV35 SNP18 Exon 5 A5, A6 5897 G/A rs2855558 41.9 41.9 41.9 42.5 IMS-JST086767
SV36 SNP19 Exon 5 A5, A6 5910 T/C - 0.7 2.9 1.8 - -
SV37 - Exon 5 A5, A6 5914 C/T - 0.0 0.7 0.4 - -
SV38 - Exon 5 A6 5944 A/G - 0.7 0.0 0.4 - -
SV39 SNP20 Exon 5 A6 6084 G/A rs3733148 8.8 19.9 14.4 15.1 IMS-JST086768
SV40 - Exon 5 A6 6129 C/T - 0.0 0.7 0.4 - -
SV41 - Exon 5 A6 6193 G/A rs3733149 0.0 0.7 0.4 0.8 IMS-JST086769
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