Mutation Details for c.3739G>C
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cDNA Name
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c.3739G>C
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Protein Name
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p.Gly1247Arg
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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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G1247R(G->C)
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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 W1282X was found on the other allele. The G1247R(GtoC) mutation was not found in 232 alleles from the general population.
This mutation may produce anomalous genetic characterization by PCR/OLA/SCS 31 mutation assay, interfering with exon 20 amplification or OLA probing.
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Contributors
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Lucarelli M, Narzi L, Piergentili R, Stamato A, Ferraguti G, Pierandrei S, Quattrucci S, Strom R
2005-11-21
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Institute
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Clinical Biochemistry Section, Dept. of Cellular Biotechnologies and Hematology and Cystic Fibrosis Center of Lazio Region, Dept. of Pediatrics; University of Rome ?La Sapienza?, Rome, Italy
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Submitted Phenotype Details
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The individual (female) was diagnosed CF by positive neonatal screening. She is PS, sweat chloride 78 mmol/l, with bilateral nasal polyposis. She has a mild pulmonary disease with persistent S. aureus colonization and bronchiectasis. No meconium ileus. No liver involvement. (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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