Mutation Details for c.1951G>A
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cDNA Name
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c.1951G>A
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Protein Name
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p.Asp651Asn
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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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D651N
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Other Details
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D651N was detected by DGGE analysis and identified by automatic sequencing. The mutation destroys a Taq I restriction site. It was found once out of 120 control chromosomes, in a 60 years old male. It was absent in 104 chromosomes of Chronic Obstructive Pulmonary Disease (COPD) patients, in 46 chromosomes of Diffuse Bronchiectasis (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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This male individual in known to only have lung cancer.
No ohter mutation was found.
(Pers. corr. Bombieri)
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Reference
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Bombieri et al. (NL#70)
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