Mutation Details for c.1856T>C

cDNA Name c.1856T>C 
Protein Name p.Leu619Ser 
Exon or Intron exon 14 
Legacy Exon or Intron exon 13 
Legacy Name L619S 
Other Details A missense mutation L619S was detected in a single German CF family. The patient is pancreas insufficient and carries the 1716G->A polymorphism on the same allele (haplotype D) and an unknown mutation on the other chromosome. L619S was not found on further 37 non-[delta]F508 CF chromosomes and 30 normal chromosomes. A silent mutation was identified within exon 17b. The change is A->T at nucleotide 3417 which does not change the corresponding amino acid Thr. This polymorphism is associated with the haplotype 1-1-2 and was found only once among 16 non-[delta]F508 CF chromosomes. 
Contributors Dork T, Kalin N, Tummler B   1991-10-11
Institute Medizinische Hochschule Hannover Hannova, Germany 
Submitted Phenotype Details The CF patient (male) is PI. He carries 1716G>A,L619S/CFTRdele2,3(21kb). (pers corr Doerk and Vankeerberghen et al. 1998) 
Reference Dörk et al. 1991 

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The Database was last updated at Apr 25, 2011