Mutation Details for c.1331T>C
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cDNA Name
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c.1331T>C
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Protein Name
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p.Ile444Thr
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Exon or Intron
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exon 10
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Legacy Exon or Intron
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exon 9
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I444T
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Other Details
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The I444T Mutation was detected by DPHLC and direct sequencing.
The CFTR screening was performed on the spouse of a F508del heterozygote. We don't know yet if I444T is a polymorphism or a real mutation. We will investigate the question.
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Contributors
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Pasquet M.C., Baudis M, Mittre.H., Kitzis A.
2007-04-25
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Institute
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Laboratoire de Genetique Cellulaire et Moleculaire, CHU de Poitiers, France
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Submitted Phenotype Details
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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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