Mutation Details for c.1013C>T

cDNA Name c.1013C>T 
Protein Name p.Thr338Ile 
Exon or Intron exon 8 
Legacy Exon or Intron exon 7 
Legacy Name T338I 
Other Details A nucleotide change C->T at position 1145 which causes the replacement of a Threonine by Isoleucine residue in codon 338 of exon 7. 
Contributors Leoni GB, Rosatelli MC, Saba L, Meloni A, Cao A   1993-03-01
Institute Istituto de Clinica e Biologia Dell'eta Evolutiva Cagliari, Italy 
Phenotype Information CFTR2
Reference Saba et al. 1993 

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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.

  • 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
  • Leoni GB, Pitzalis S, Tonelli R, Cao A   Identification of a novel mutation (S13F) in the CFTR gene in a CF patient of Sardinian origin.   1998;11(4):337
  • Rendine S, Calafell F, Cappello N, Gagliardini R, Caramia G, Rigillo N, Silvetti M, Zanda M, Miano A, Battistini F, Marianelli L, Taccetti G, Diana MC, Romano L, Romano C, Giunta A, Padoan R, Pianaroli A, Raia V, De Ritis G, Battistini A, Grzincich G, Japichino L, Pardo F, Piazza A, et al   Genetic history of cystic fibrosis mutations in Italy. I. Regional distribution.   1997 009;61 ( Pt 5):411-24
  • 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

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The Database was last updated at Apr 25, 2011