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. 2022 May 11;107(1):157–167. doi: 10.1093/biolre/ioac093

Table 1.

Summary of sequence variants in TAF7L found in oligozoospermic and control men

Position Nucleotide changea Resultant changea 113 175
Exon 4 c.407A➔G Missense mutation, D136G 1b 0
Exon 5 c.633G➔A Silent 1 0
Intron 2 –47G➔C Intronic alteration 2 0
Intron 4 +42A➔C Intronic alteration 1 0
Polymorphisms
Exon 9 c.922A➔G Missense mutation, S222G 19 25
Exon 10 c.1026del(TGAGGA) Del(ED) in a stretch of EDED 22 40
Exon 13 c.1373G➔A Missense mutation, C370Y 2 4
Intron 7 –57C➔G Intronic alteration 1 1
Intron 8 +52A➔G Intronic SNP: rs3788764 44 61
Intron 10 +91A➔G Intronic SNP: rs3761514 40 60
a

Reference sequences: human TAF7L cDNA, NM_024885; human TAF7L protein, NP_079161.

b

Number of males with the given sequence variant.