Mutation Details for c.418C>T
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cDNA Name
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c.418C>T
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Protein Name
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p.Pro140Ser
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Exon or Intron
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exon 4
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Legacy Exon or Intron
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exon 4
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P140S
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Other Details
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A novel mutation has been identified by DGGE and direct sequencing. The nucletoide change C->T, at position 550, leads to P140S in exon 4.
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Contributors
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Ferec C,
Quere I,
Verlingue C,
Raguenes O,
Audrezet M-P,
Mercier B
1994-01-03
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Institute
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Centre de Transfusion Sanguine et de Biogenetique
Brest, France
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Submitted Phenotype Details
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The mutation was identified in a patient with diseminated bronchiectasis. (pers. corr. Ferec)
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Reference
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Férec et al. (NL#61)
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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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