Mutation Details for c.1679G>C

cDNA Name c.1679G>C 
Protein Name p.Arg560Thr 
Exon or Intron exon 12 
Legacy Exon or Intron exon 11 
Legacy Name R560T 
Other Details The individual carrying this mutation is from family #32 and the chromosome is marked by haplotype IIIb. The mutation creates a MseII site which cleaves the PCR product of exon 11 into 2 fragments of 214 and 204 bp in size. None of the 36 non-[delta]F508 CF chromosomes or 23 normal chromosomes carries this sequence alteration. The R560T mutation is also not present on 8 CF chromosomes with the [delta]F508 chromosomes. 
Contributors Kerem B, Tsui LC   1990-03-20
Institute The Hospital for Sick Children Toronto, ON, CAN 
Phenotype Information CFTR2
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.

  • Bayleran JK, Yan H, Hopper CA, Simpson EM   Frequencies of cystic fibrosis mutations in the Maine population: high proportion of unknown alleles in individuals of French-Canadian ancestry.   1996 008;98(2):207-9
  • Champigny G, Imler JL, Puchelle E, Dalemans W, Gribkoff V, Hinnrasky J, Dott K, Barbry P, Pavirani A, Lazdunski M   A change in gating mode leading to increased intrinsic Cl- channel activity compensates for defective processing in a cystic fibrosis mutant corresponding to a mild form of the disease.   1995 006 1;14(11):2417-23
  • Estivill X, Bancells C, Ramos C   Geographic distribution and regional origin of 272 cystic fibrosis mutations in European populations. The Biomed CF Mutation Analysis Consortium.   1997;10(2):135-54
  • Hughes D, Wallace A, Taylor J, Tassabehji M, McMahon R, Hill A, Nevin N, Graham C   Fluorescent multiplex microsatellites used to define haplotypes associated with 75 CFTR mutations from the UK on 437 CF chromosomes.   1996;8(3):229-35
  • Kristidis P, Bozon D, Corey M, Markiewicz D, Rommens J, Tsui LC, Durie P   Genetic determination of exocrine pancreatic function in cystic fibrosis.   1992 006;50(6):1178-84
  • Schwarz MJ, Malone GM, Haworth A, Cheadle JP, Meredith AL, Gardner A, Sawyer IH, Connarty M, Dennis N, Seller A, et al   Cystic fibrosis mutation analysis: report from 22 U.K. regional genetics laboratories.   1995;6(4):326-33
  • 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
  • Traystman MD, Schulte N, Colombo JL, Sammut PH, Reilly P, Patel C, Acquazzino D, Simanek B, Anderson R, Kimberling WJ, et al   Mutation analysis and haplotype correlation for 139 cystic fibrosis patients from the Nebraska Regional Cystic Fibrosis Center.   1993;2(1):7-15
  • Traystman MD, Schulte NA, MacDonald M, Anderson JR, Sanger WG   Mutation analysis for cystic fibrosis to determine carrier status in 167 sperm donors from the Nebraska Genetic Semen Bank.   1994;4(4):271-5
  • al-Jader LN, Meredith AL, Ryley HC, Cheadle JP, Maguire S, Owen G, Goodchild MC, Harper PS   Severity of chest disease in cystic fibrosis patients in relation to their genotypes.   1992 012;29(12):883-7

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The Database was last updated at Apr 25, 2011