Mutation Details for c.3215C>T
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cDNA Name
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c.3215C>T
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Protein Name
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p.Pro1072Leu
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Exon or Intron
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exon 20
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Legacy Exon or Intron
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exon 17b
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P1072L
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Other Details
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P1072L was detected by DGGE analysis and identified by automatic sequencing in a COPD patient with chronic bronchitis. The mutation creates an Alu I restriction site. It was found once out of 104 chromosomes of COPD patients. It was never observed in 120 control chromosomes, in 46 chromosomes of DBE patients, and in 104 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 individual (M) is 47y. He is NOT a CF patient, but a COPD (chronic bronchitis) patient. FEV1=41.8%
No other mutation was found.
(Pers. corr. Bombieri; Bombieri et al. 1998)
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Reference
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Bombieri et al. (NL#70)
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