Mutation Details for c.366T>A

cDNA Name c.366T>A 
Protein Name p.Tyr122X 
Exon or Intron exon 4 
Legacy Exon or Intron exon 4 
Legacy Name Y122X 
Other Details This mutation creates a MseI site, digestion of the PCR generated from primers 41-5 and 41-3 should yield 4 fragments for the normal sequence and 5 fragments for the mutant sequence. This mutation was detected in a French family from the Reunion Island (Indian Ocean) and is associated with haplotype The patient carrying this mutation is a five year old boy, and his other CF chromosome is [delta]F508. It is a PI patient. We tested 162 other non-[delta]F CF chromosomes and 60 normal chromosomes and we did not find another example of this mutation. 
Contributors Chevalier-Porst F, Mathieu M, Godet J   1990-10-15
Institute Hopital Debrousse Cedex, France 
Phenotype Information CFTR2
Reference Chevalier-Porst et al 1992 

To check if there are any papers published about this mutation/variant on PubMed, please click here.
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.

  • Bienvenu T, Bousquet S, Herbulot C, Cartault F, Kaplan JC, Beldjord C   Simultaneous detection of the two prevalent mutations in the cystic fibrosis gene in Reunion Island.   1993;2(4):306-8
  • Bienvenu T, Cartault F, Lesure F, Renouil M, Beldjord C, Kaplan JC   A splicing mutation in intron 16 of the cystic fibrosis transmembrane conductance regulator gene, associated with severe disease, is common on Reunion Island.   1996 005-006;46(3):168-71
  • Claustres M, Desgeorges M, Kjellberg P, Tissot C, Demaille J   Analysis of 30 known cystic fibrosis mutations: 10 mutations account for 27% of non-delta F508 chromosomes in southern France.   1992 012;90(4):464-6
  • Claustres M, Desgeorges M, Moine P, Morral N, Estivill X   CFTR haplotypic variability for normal and mutant genes in cystic fibrosis families from southern France.   1996 009;98(3):336-44
  • 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

Comments or questions? Please email to cftr.admin
The Database was last updated at Apr 25, 2011