Mutation Details for c.566A>G

cDNA Name c.566A>G 
Protein Name p.Asn189Ser 
Exon or Intron exon 5 
Legacy Exon or Intron exon 5 
Legacy Name N189S 
Other Details  
Contributors Angius A, Bitetti M, Furbetta M.    2006-05-12
Institute Pediatria, Laboratorio di Genetica Molecolare, Universit√† degli Studi di Perugia, Italy. 
Submitted Phenotype Details N189S was identified in a adult Italian man studied for couple?s infertility. He had a normal semen analysis. The above mutation was detected by DGGE analysis and confirmed by DNA sequencing.  

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The Database was last updated at Apr 25, 2011