Mutation Details for c.2846A>T

cDNA Name c.2846A>T 
Protein Name p.His949Leu 
Exon or Intron exon 17 
Legacy Exon or Intron exon 15 
Legacy Name H949L 
Other Details The nucleotide change was found by DGGE followed by sequencing of both the strands. This mutation was identified in 4 male patients from Puglia, region of Southern Italy. This mutation was identified in cis with another mutation: H939R. This is a novel complex CFTR allele: H939R + H949L. 
Contributors Polizzi A., Santostasi T., Manca A., Logrillo V.P., Armenio L.   2005-11-17
Institute Dipartimento di Biomedicina Eta Evolutiva- Laboratorio Fibrosi Cistica ? Policlinico- BARI - ITALY 
Submitted Phenotype Details The clinical picture of the 4 patients with the complex allele H939R + H949L is different; in the other hand the four cases have different genotype.(pers. corr. Polizzi) 

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The Database was last updated at Apr 25, 2011