Mutation Details for c.1435G>T
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cDNA Name
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c.1435G>T
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Protein Name
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p.Glu479X
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Exon or Intron
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exon 11
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Legacy Exon or Intron
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exon 10
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E479X
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Other Details
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This mutation is identified on one Italian CF chromosome applying a protocol of extended mutation search. The mutation deltaF508 was found on the other allele. The E479X mutation produces anomalous electropherogram, and possibily wrong genetic characterization, by PCR/OLA assay, interfering with exon 10 amplification or OLA probing.
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Contributors
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Narzi L, Stamato A, Narzi F, Amato A, Lucarelli M, Strom R, Quattrucci S.
2007-03-13
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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; University of La Sapienza, Rome, italy.
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Submitted Phenotype Details
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The CF individual (male, 30 yrs) was diagnosed at 1 year of age by symptoms; he is PI with sweat chloride at 106 mmol/l. He has moderate pulmonary disease with persistent P Aeruginosa colonization and mild 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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