Mutation Details for c.4124A>C
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cDNA Name
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c.4124A>C
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Protein Name
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p.His1375Pro
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Exon or Intron
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exon 25
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Legacy Exon or Intron
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exon 22
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H1375P
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Other Details
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This mutation was identified on 3 Italian CF chromosomes, applying a protocol of extended mutational search (5?-flanking region, all the exons and adjacent intronic regions) by DHPLC and direct sequencing. No other mutations were found on the same alleles. The H1375P mutation was not found in 232 alleles from the general population. In two of the subjects carrying this mutation and sharing the same regional origin, the 2789+5GtoA was found on both other alleles. In the other subject the G85E was found.
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Contributors
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Narzi L, Seia M, Amato A, Porcaro L, Narzi F, Lucarelli M, Strom R, Colombo C, Quattrucci S
2005-11-21
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Institute
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Cystic Fibrosis Center of Lazio Region, Dept. of Pediatrics and Clinical Biochemistry Section, Dept. of Cellular Biotechnologies and Hematology, Universit? ?La Sapienza?, Roma;
Molecular Genetics Section, Dept. of Laboratory Medicine, AO Istituti Clinici di Perfezionamento, Milano. Italy.
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Submitted Phenotype Details
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All 3 subjects were PS without lung microbial colonization.
The two individuals (males) with H1375P/2789+5GtoA genotype were selected for CBAVD and diagnosed as CF with moderate lung involvement. The first showed sweat chloride at 75 mmol/l with persistent catarrhal cough, two pneumonia events and no pancreatitis. The second showed sweat chloride at 62 mmol/l with parenchymal infiltration and emphysema and two pancreatitis events.
The third individual (female, 2.5 years) with H1375P/G85E genotype was selected by CF neonatal screening and diagnosed as CF with sweat chloride at 81 mmol/l. 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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