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Table 5 The mtDNA mutations identified in the ND1, ND2, and ATPase6 genes

From: Assessment of correlation between asthenozoospermia and mitochondrial DNA mutations in Egyptian infertile men

Nucleotide position Nucleotide change Amino acid change Mutation in Normo. Mutation in Astheno. Frequency (%) Mitomap (Y)
ND1 gene
 3396 T–C Silent   1 6.6 Y
 3398 T–C M–T   1 6.6 X
 3423 T–C Silent   1 6.6 X
 3594 C–T Silent   2 13.3 Y
 3693 G–A Silent   1 6.6 Y
 3705 G–A Silent   2 13.3 Y
 3821 T–C L–P   1 6.6 Y
 4048 G–A D–N   1 6.6 Y
 4104 A–G Silent 1 2 20.0 Y
 4158 A–G Silent 1   6.6 Y
 4169 Ins. T L–P 1 1 13.3 Y
 4216 T–C Y–H 1   6.6 Y
ND2 gene
 4613 Del A Silent 1 1 13.3 X
 4767 A–G M–V 1 6 46.6 Y
 4769 A–G Silent 1 1 13.3 Y
 4856 T–C Silent   1 6.6 Y
 4940 C–T Silent   1 6.6 Y
 4958 A–G Silent   1 13.3 Y
 4991 G–A Silent 2 1 20.0 Y
 5004 T–C Silent   1 6.6 Y
 5027 C–T Silent 1   6.6 Y
 5111 C–T Silent   1 6.6 Y
 5147 G–A Silent 1 3 26.6 Y
 5320 C–T T–I 1 1 13.3 Y
 5331 C–A P–H 1   6.6 Y
 5351 A–G Silent 2 1 20.0 Y
ATPase 6 gene
 8697 G–A Silent 1   6.6 Y
 8701 A–G T–A 1 6 46.6 Y
 8860 A–G T–A 1 6 46.6 Y
 9075 C–T Silent 1 2 13.3 Y
 9148 T–C Silent   1 6.6 Y
Total mutation numbers = 31
  1. Y the mutation proven by www.mitomap.org, X novel mutation
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