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Table 2 EGR4 sequencing results from the non-obstructive azoospermia group

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)