Mutation Details for c.1324A>T
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cDNA Name
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c.1324A>T
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Protein Name
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p.Lys442X
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Exon or Intron
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exon 10
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Other Details
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This mutation was identified on 1 Italian CF patient, applying a protocol of extended mutational search (5’-flanking region, all the exons and adjacent intronic regions) by direct sequencing. The F508del mutation was found on the other allele. The place of origin of the father, carrying the K442X mutation, is Sardegna.
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Contributors and Institutes
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| Lucarelli M | - | Cystic Fibrosis Center of Lazio Region, Dept. of Pediatrics, Sapienza University of Rome | | Bruno S M | - | Cystic Fibrosis Center of Lazio Region, Dept. of Pediatrics, Sapienza University of Rome | | Narzi L | - | Cystic Fibrosis Center of Lazio Region, Dept. of Pediatrics, Sapienza University of Rome | | Pierandrei S | - | Cystic Fibrosis Center of Lazio Region, Dept. of Pediatrics, Sapienza University of Rome | | Narzi F | - | Cystic Fibrosis Center of Lazio Region, Dept. of Pediatrics, Sapienza University of Rome | | Amato A | - | Cystic Fibrosis Center of Lazio Region, Dept. of Pediatrics, Sapienza University of Rome | | Strom R | - | Cystic Fibrosis Center of Lazio Region, Dept. of Pediatrics, Sapienza University of Rome | | Quattrucci S | - | Cystic Fibrosis Center of Lazio Region, Dept. of Pediatrics, Sapienza University of Rome |
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Submitted Phenotype Details
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The individual (male, 2 years) with F508del / K442X genotype was selected by neonatal screening and diagnosed CF. He is PI with sweat chloride test at 80 and 76 mmol/l. He has mild lung disease with parenchymal infiltration without colonization. No meconium ileus. No liver involvement
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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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