Mutation Details for c.3730G>A

cDNA Name c.3730G>A 
Protein Name p.Gly1244Arg 
Exon or Intron exon 23 
Legacy Exon or Intron exon 20 
Legacy Name G1244R 
Other Details This mutation was identified on one Italian CF chromosome, applying a protocol of extended mutational search (5?-flanking region, all the exons and adjacent intronic regions) by direct sequencing. No other mutations were found on the same allele. The mutation 3849+10KbCtoT was found on the other allele. The G1244R mutation was not found in 232 alleles from the general population. 
Contributors Lucarelli M, Narzi L, Piergentili R, Ferraguti G, Grandoni F, Quattrucci S, Strom R   2005-09-21
Institute Clinical Biochemistry Section, Dept. of Cellular Biotechnologies and Hematology, University of Rome ?La Sapienza?, Rome, Italy 
Submitted Phenotype Details The individual (male, 5 yrs), diagnosed CF, was suspected since 1.5 yrs. He is PS, sweat chloride 54 mmol/l, with nasal polyposis. He has a mild pulmonary disease with occasional non-mucoid P. aeruginosa and persistent S. aureus colonization, persistent catarrhal cough, repeated wheezing, slight pulmonary emphysema, pneumonia dx at 3 months. No meconium ileus. No liver involvement. Negative to neonatal screening for negative first IRT dosage. (pers. corr. Quattrucci) 

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The Database was last updated at Apr 25, 2011