From: Sequence variations of the EGR4 gene in Korean men with spermatogenesis impairment
Allele Frequency (%) | |||||||||
---|---|---|---|---|---|---|---|---|---|
Oligozoospermia/Azoospermia | Normal Group | ||||||||
(n = 170) | (N = 272) | ||||||||
Location | Variation | Amino Acid Variation | dbSNP ID | Wild Type | Heterozygote | Homozygote | Wild Type | Heterozygote | Homozygote |
Exon 1 | c.65_66InsG | p. Cys23Leufs*37 | rs771189047 | 169 (99.41) | 1 (0.59) | 0 | 272 (100) | 0 | 0 |
Exon 1 | c.214C > A | p. Arg72Ser | rs561568849 | 168 (98.88) | 2 (1.18) | 0 | 270 (92.26) | 2 (0.74) | 0 |
Exon 1 | c.236C > T | p. Pro79Leu | rs763487015 | 169 (99.41) | 1 (0.59) | 0 | 272 (100) | 0 | 0 |
Exon 2 | c.867C > G | p. Leu289 | rs115948271 | 167 (98.24) | 3 (1.76) | 0 | 265 (97.42) | 7 (2.58) | 0 |
Exon 2 | c.1230G > A | p. Thr410 | rs528939702 | 169 (99.41) | 1 (0.59) | 0 | 245 (100) | 0 | 0 |
Exon 2 | c.1294G > T | p. Val432Leu | rs546250227 | 169 (99.41) | 1 (0.59) | 0 | 245 (100) | 0 | 0 |
Exon 2 | c.1488C > T | p. Arg496 | rs7558708 | 40 (23.53) | 95 (55.88) | 35 (20.59) | 70 (25.74) | 141 (51.84) | 61 (22.42) |
3′-UTR | c.2373 + 52C > T | Non-coding | rs2229294 | 40 (23.53) | 95 (55.88) | 35 (20.59) | 70 (25.74) | 141 (51.84) | 61 (22.42) |