Mutation Details for c.454A>T

cDNA Name c.454A>T 
Protein Name p.Met152Leu 
Exon or Intron exon 4 
Legacy Exon or Intron exon 4 
Legacy Name M152L 
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 This mutation was detected in a 48 y old Italian man with asthenospermia undergoing screening due to infertility treatment. 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