Mutation Details for c.1501A>G

cDNA Name c.1501A>G 
Protein Name p.Thr501Ala 
Exon or Intron exon 11 
Legacy Exon or Intron exon 10 
Legacy Name T501A 
Other Details This missense mutation was found by DGGE and identified by DNA sequencing in a CF patient from Southern France, who carries the rare polymorphism 3499+37G->A in intron 17b on the same chromosome. The mutation 1811+1.6KbA->G in intron 11 was found in trans. This variation creates one restriction site for HhaI. 
Contributors Claustres M, Des Georges M Guittard C   1999-02-02
Institute Institut de Biologie Montpellier 
Submitted Phenotype Details Patient (F) is 8y, has PI, severe lung disease, and high (120mM/l) sweat-chloride. 3499+37G>A was found on the same allele as T501A. 1811+16KbA was found on the other allele. (Pers. corr. Claustres) 
Reference Claustres et al. 1999 

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The Database was last updated at Apr 25, 2011