Table 3 of Corso-Díaz, Mol Vis 2012; 18:2770-2782.


Table 3. Variation identified in NR2E1.

Nucleotide changea Amino-acid change Locationb Proband allele freq. UFM Control allele freq. Total allele freq. Previously reported Flanking sequence
g.-2945A>G N/A CE11A (Upstream) 2/160 1 0/324 2/484 (0.41)c [47] TCAGAACTGTATTGTGATTTA
g.-1507G>A N/A CE12A (Upstream) 1/160 1 0/370 1/530 (0.19)c This study AATGGGGAGGGGGTAGGGGAT
g.-1492G>A N/A CE12A (Upstream) 8/160 1 0/370 8/530 (1.51) [47] GGGGATGAGGGCCTCTCTTCA
g.-1453C>G N/A CE12A (Upstream) 1/160 0 1/370 2/530 (0.38)c [47] AGCGGGAGCCCGCAACGCCCG
g.-555C>T N/A 5′UTR 1/160 0 2/370 3/530 (0.57)c [47] ATCTAGTTTTCCCACTCTGCG
g.-364C>A N/A 5′UTR 1/160 0 ND 1/160 (0.63)c dbSNP CGTAGGAAGGCCATTTTCGTG
g.-200G>C N/A 5′UTR 8/160 1 ND 8/160 (5.00) [47] AGAAACTTAAGGATGCTTAAA
g.-93A>G N/A 5′UTR 117/160 15 ND 117/160 (73.13) [47] GCTGGAGGGCAGCTGGAGAGC
g.-34C>T N/A 5′UTR 7/160 1 ND 7/160 (4.38) [47] ACTCGGGCAGCGCCCACCAAC
g.2040G>A N/A CE17B (Intron 1) 74/160 11 ND 74/160 (46.25) dbSNP CGCCTTGCCCGGCTTCTCGCG
g.3026C>G N/A CE19B (Intron 1) 1/160 1 ND 1/160 (0.63)c [47] GAGGGGGGCGCCGAGCCGGTG
g.3154C>T N/A CE19B (Intron 1) 12/160 0 44/370 56/530 (10.57) dbSNP GTTGTAATTACCCGGCCGAGC
g. 4601–4602delTC N/A Intron 1 15/160 1 ND 15/160 (9.38) [47] TTGCTTAGCATCTCTCTCTCC
g.10049–10050delTG N/A Intron 4 80/160 12 ND 80/160 (50.00) dbSNP CTGAGCTGTGTGATTGGGGTC
g.14121C>G p.Arg274Gly Exon 7 1/160 0 0/746 1/906 (0.11)c This study GGTGGTGGCTCGATTTAGACA
g.14258C>T N/A Intron 7 1/160 0 0/746 1/906 (0.11)c This study TCAGCCACCTCGAAGTCTGAA
g.14672C>A N/A Intron 7 8/160 0 ND 8/160 (5.00) dbSNP AAGTGATCCGCCTGCCTCGGC