Mutation Details for c.3752G>A

cDNA Name c.3752G>A 
Protein Name p.Ser1251Asn 
Exon or Intron exon 23 
Legacy Exon or Intron exon 20 
Legacy Name S1251N 
Other Details The nucleotide change is G to A at position 3884 and results in an amino acid change of the conserved serine by an asparagine (S1251N). The two unrelated German CF patients (17 and 19 years old) are pancreas insufficient and suffer from all typical signs of the disease. The mutation destroys recognition sites for RsaI and EarI. Digestion with RsaI results in five fragments for the normal (188, 95, 82 79, 29 bp) and four fragments for the mutant allele (267, 95, 82, 29 bp). The mutation was not found on further 67 German and 12 turkish non-[delta] CF chromosomes nor on 20 normal chromosomes. S1251N is associated with the haplotype 2-1-1-2 (XV2c-KM, 19-D9-J44) and with F508C. 
Contributors Kalin N, Dork T, Tummler B   1991-12-10
Institute Medizinische Hochschule Hannover 
Phenotype Information CFTR2
Reference K√§lin et al. 1992a; Mercier et al. 1993a 

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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.

  • Kalin N, Dork T, Tummler B   A cystic fibrosis allele encoding missense mutations in both nucleotide binding folds of the cystic fibrosis transmembrane conductance regulator.   1992;1(3):204-10




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The Database was last updated at Apr 25, 2011