Mutation Details for c.1646G>T

cDNA Name c.1646G>T 
Protein Name p.Ser549Ile 
Exon or Intron exon 12 
Legacy Exon or Intron exon 11 
Legacy Name S549I 
Other Details This mutation destroys a Ddel site, similar to G549N, and therefore one cannot distinguish the two by Ddel digestion. 
Contributors Kerem B, Zielenski J, Tsui LC   1990-03-26
Institute The Hospital for Sick Children Toronto, ON, Canada 
Submitted Phenotype Details  
Reference Kerem et al. 1990 

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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.

  • Fugger EF, Maddalena A, Schulman JD   Results of retroactive testing of human semen donors for cystic fibrosis and human immunodeficiency virus by polymerase chain reaction.   1993 009;8(9):1435-7
  • Lindner M, Wolf A, Moh B, Steinbach P, Kleihauer E, Bartram CR, Kulozik AE   The spectrum of CFTR mutations in south-west German cystic fibrosis patients.   1992 011;90(3):267-9
  • Livshits LA, Kravchenko SA   Cystic Fibrosis in Ukraine: age, origin and tracing of the delta F508 mutation.   1996 012;10(3):219-27
  • 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
  • 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
  • Schaedel C, Andersson AM, Kristoffersson AC, Kornfalt R, Lannefors L, Holmberg L   Mild cystic fibrosis mutations in Southern Sweden with special reference to S549I and T338I.   1998 005;53(5):383-6
  • Sereth H, Shoshani T, Bashan N, Kerem BS   Extended haplotype analysis of cystic fibrosis mutations and its implications for the selective advantage hypothesis.   1993 010 1;92(3):289-95
  • Shrimpton AE, McIntosh I, Brock DJ   The incidence of different cystic fibrosis mutations in the Scottish population: effects on prenatal diagnosis and genetic counselling.   1991 005;28(5):317-21

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The Database was last updated at Apr 25, 2011