Mutation Details for c.1745C>G

cDNA Name c.1745C>G 
Protein Name p.Thr582Arg 
Exon or Intron exon 13 
Legacy Exon or Intron exon 12 
Legacy Name T582R 
Other Details The mutation was detected by DGGE and direct sequencing. The C in position 1877 changes to G and leads to T582R. The mutation has been found in one Spanish CF patient carrying 1609delCA on the other chromosome (1 among 98 non-[delta]F508 screened). He has inherited the T582R from his mother who is originally from Aragon. The mutation is associated to a very rare microsatellite haplotype (18/37/13), in fact this man is the only CF patient we have with this haplotype. We have not found any normal chromosome carrying this haplotype neither. The patient is a 37 year old PS and has no Pseudomonas colonization. He has repiratpry problems and a sweat test with values higher than 120 mEq/1. 
Contributors Casals T, Palacio A, Nunes V, Estivill X, Ferec C, Audrezet MP   1993-05-19
Institute Institut de Recerca Oncologica Barcelona, Spain 
Submitted Phenotype Details Patient (M) died at age 41y, had PI, severe lung disease and elevated sweat-chloride (120mM/l). 1609delCA was found on the other allele. This is probably a mild mutation, late diagnosis (37y) is most likely the cause for this patients early death. (Pers. corr. Casals; Casals et al. 1997) 
Reference Casals et al. (NL#55) 

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The Database was last updated at Apr 25, 2011