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Table 2 Results of the mutation analysis of exon 3 of DAZLA gene in chromosome 3

From: Analysis of genetic variants in the exon 2 and 3 of autosomal DAZLA gene among infertile South Indian men

Sample ID

Physical

location

Nucleotide variation

Residue change

Amino acid change

Type of variation

Phenotype

94

Chr3:16639671

c.165G>C

GAG to GAC

p.E55D

Nonsynonymous SNV

Oligoasthenospermia

119

Chr3:16639671

c.165G>C

GAG to GAC

p.E55D

Nonsynonymous SNV

Azoospermia

109

Chr3:16639651

c.185G>C

AGA to ACA

p.R62T

Nonsynonymous SNV

Oligoasthenospermia

73

Chr3:16639643

Chr3:16639639

c.193T>A

c.197T>A

TCA to ACA

GTG to GAG

p.S65T

p.V66E

Nonsynonymous SNV

Nonsynonymous SNV

Azoospermia

128

Chr3: 16639618 _16639616

c.218_220insG

GAT to TGA

p.D74X

Nonsense mutation

Necrospermia

95

Chr3:16639605

c.231T>A

GGT to GGA

p.G77G

Synonymous SNV

Idiopathic

103

Chr3:16639605

c.231T>G

GGT to GGG

p.G77G

Synonymous SNV

Idiopathic