Mutation Details for c.3730G>A
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cDNA Name
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c.3730G>A
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Protein Name
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p.Gly1244Arg
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Exon or Intron
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exon 23
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Legacy Exon or Intron
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exon 20
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G1244R
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Other Details
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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.
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Contributors
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Lucarelli M, Narzi L, Piergentili R, Ferraguti G, Grandoni F, Quattrucci S, Strom R
2005-09-21
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Institute
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Clinical Biochemistry Section, Dept. of Cellular Biotechnologies and Hematology, University of Rome ?La Sapienza?, Rome, Italy
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Submitted Phenotype Details
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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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Reference
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To check if there are any papers published about this mutation/variant on PubMed, please click here.
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