Mutation Details for c.1907T>C
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cDNA Name
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c.1907T>C
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Protein Name
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p.Leu636Pro
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Exon or Intron
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exon 14
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Legacy Exon or Intron
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exon 13
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L636P
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Other Details
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L636P was detected by DGGE analysis and identified by automatic sequencing in a child with DBE. Sweat test and pancreatic function were normal. It was found once out of 28 chromosomes of children DBE patients. It was absent in 120 control chromosomes, in 104 chromosomes of COPD patients, in 46 chromosomes of DBE patients, and in 60 chromosomes of CF patients.
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Contributors
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Bombieri C,
Benetazzo MG,
Pignatti PF
1998-05-26
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Institute
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Inst. Biology and Genetics, University of Verona
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Submitted Phenotype Details
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Patient (F) is 12y, has PS, normal lung function (FEV1=112%), normal swest-chloride levels and Diffuse Bronchiectasis.
No other mutation was found.
(Pers. corr. Bombieri)
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Reference
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Bombieri et al. (NL#70)
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