Mutation Details for c.1438G>T

cDNA Name c.1438G>T 
Protein Name p.Gly480Cys 
Exon or Intron exon 11 
Legacy Exon or Intron exon 10 
Legacy Name G480C 
Other Details This mutation was found in an American Black patient who has an unknown mutation on the other chromosome and is pancreatic insufficient. This mutation was found in one additional non-[delta]F508 CF chromosome of 378 tested. It was not found in over 700[delta]F508 chromosomes, nor in a small number of normal chromosomes. 
Contributors Strong T, Smit L, Cole J, Iannuzzi M, Tsui LC, Collins F   1991-02-01
Institute Howard Hughes Medical Institute Research Laboratories Ann Arbor, MI, USA 
Submitted Phenotype Details Kristidis et all 1992 - Mutation associated with PI Smit et all 1995 & pers. corr. Smit - one african-american patient, with PI and high sweat chloride. Other mutation unknown.  
Reference Smit et al. 1991 

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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.

  • Dickinson P, Kimber WL, Kilanowski FM, Webb S, Stevenson BJ, Porteous DJ, Dorin JR   Enhancing the efficiency of introducing precise mutations into the mouse genome by hit and run gene targeting.   2000 002;9(1):55-66
  • 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
  • Smit LS, Strong TV, Wilkinson DJ, Macek M, Mansoura MK, Wood DL, Cole JL, Cutting GR, Cohn JA, Dawson DC, et al   Missense mutation (G480C) in the CFTR gene associated with protein mislocalization but normal chloride channel activity.   1995 002;4(2):269-73

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The Database was last updated at Apr 25, 2011