Mutation Details for c.3764C>A

cDNA Name c.3764C>A 
Protein Name p.Ser1255X 
Exon or Intron exon 23 
Legacy Exon or Intron exon 20 
Legacy Name S1255X 
Other Details This mutation causes the amino acid substitution of I1203V which does not occur in a highly conserved region of the gene and appears to be a conservative substitution. In addition, this alteration occurs on a chromosome carrying a nonsense mutation in exon 20 (S1255X). This mutation was expected to be a neutral polymoprhism. However, we are unable to find this change on 33 normal American Black chromosomes carrying at least two polymorphic sites in common with the haplotype of this patient. The haplotype associated with this mutation is 2-2-U-2. This mutation can be detected by AatII digestion of exon 19 amplified DNA using the 19i5' and 19i3' primers. The presence of the mutation cuts the normal 454 basepair fragment into 68 and 268 basepairs. 
Contributors Cutting GR, Curristin S   1991-01-04
Institute Johns Hopkins Hospital Baltimore, MD, USA 
Submitted Phenotype Details  
Reference Cutting et al. 1990b 

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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.

  • Coutelle C, Bruckner R, Grade K, Behrens F, Gedschold J, Hein J, Szibor R, Bauer I, Brock J, Graupner I, et al   Prevalence of cystic fibrosis mutations in the East German population.   1992;1(2):109-12
  • Nunes V, Gasparini P, Novelli G, Gaona A, Bonizzato A, Sangiuolo F, Balassopoulou A, Gimenez FJ, Dognini M, Ravnik-Glavac M, et al   Analysis of 14 cystic fibrosis mutations in five south European populations.   1991 010;87(6):737-8
  • Padoa C, Goldman A, Jenkins T, Ramsay M   Cystic fibrosis carrier frequencies in populations of African origin.   1999 001;36(1):41-4
  • Ravnik-Glavac M, Gasparini P, Peterlin B, Strukelj M, Glavac D, Canki-Klain N, Pignatti PF, Komel R   Cystic fibrosis gene mutations and linked RFLPs in the Slovenian population.   1992;35(2):85-8
  • Rolfini R, Cabrini G   Nonsense mutation R1162X of the cystic fibrosis transmembrane conductance regulator gene does not reduce messenger RNA expression in nasal epithelial tissue.   1993 012;92(6):2683-7

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The Database was last updated at Apr 25, 2011