Mutation Details for c.1043T>A

cDNA Name c.1043T>A 
Protein Name p.Met348Lys 
Exon or Intron exon 8 
Legacy Exon or Intron exon 7 
Legacy Name M348K 
Other Details The mutation on the other chromosome is still unknown. This mutation was found on one chromosome while screening 56 Italian CF chromosomes. 
Contributors Novelli G, Sangiuolo F, Dallapiccola B Ferec C, Quere I, Mercier B, Audrezet MP   1992-05-07
Institute Centre de Transfusion Sanguine et de Biogenetique Brest, France 
Submitted Phenotype Details The mutation was identified in a CF patient of Italian origin. (pers. corr. Ferec) Previously found in a severely affected Italian patient, M348K was found in a symptomless 48-year old individual also carrying L346P on the other allele.(Deltas et al. 1996) 
Reference Audr├ęzet et al. 1993b 

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Literature referencing this mutation. Sort by: 
Note: This reference list is not up-to-date at this stage, but may be searched for some rare variants without pubmed hits.





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The Database was last updated at Apr 25, 2011