Mutation Details for c.3278T>C
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cDNA Name
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c.3278T>C
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Protein Name
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p.Leu1093Pro
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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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L1093P
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Other Details
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The above mutation was found by SSCP/HA in a compound heterozygote; the other mutation is N1303K. The patient is Caucasian, has pancreatic insufficiency, elevated sweat chloride concentrations (116 mEg/L on 12/13/67), and pulmonary disease that required a lung transplant.
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Contributors
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Wine J,
Robinson C,
Law T,
Moss R
1996-08-19
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Institute
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Stanford University,
Stanford, California.
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Submitted Phenotype Details
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Patient (M) is 31y, has PI, severe lung disease (FEV1=33-45%) with PA colonisation and Aspergillosis and high sweat-chloride levels (116mM/l). He has severe oesophagitis, osteoporosis and has had a heart-lung transplant at age 30y.
N1303K was found on the other allele.
This is probably a Native American mutation.
(Yee et al. 1999 and pers. corr. Wine)
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Reference
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Wine et al. (NL#69)
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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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