Mutation Details for c.4201G>A
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cDNA Name
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c.4201G>A
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Protein Name
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p.Glu1401Lys
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Exon or Intron
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exon 26
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Legacy Exon or Intron
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exon 23
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E1401K
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Other Details
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The new missense mutation in the exon 23 was detected by DGGE and identified by direct sequencing. The mutation was found in an isolated CBAVD patient, carrying [delta]F508 on the other allele.
The mutation was not observed in 200 CFTR alleles from 100 healthy fertile males, 20 CF alleles from 10 CF patients and 90 chromosomes from 45 CBAVD patients.
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Contributors
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Grangeia A., Carvalho F., Fernandes S., Sousa M., Barros A.
2006-04-07
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Institute
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Department of Genetics, Faculty of Medicine of Porto, Portugal
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Submitted Phenotype Details
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The patient was diagnosed with CBAVD, is PS, no pulmonary disease and negative sweat-chloride test (pers. corr. Grangeia).
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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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