Mutation Details for c.1720C>T
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cDNA Name
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c.1720C>T
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Protein Name
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p.Pro574Ser
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Exon or Intron
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exon 13
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Legacy Exon or Intron
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exon 12
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P574S
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Other Details
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The P574S mutation was simultaneously detected in two families with no apparent relation but living in the center part of France (Auvergne). The P574S mutation was detected in CFTR gene by DGGE and identified by sequencing.
In one family this mutation was associated with N1303K, in the other family it was associated with the F508del.
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Contributors
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Baudis M., Pasquet M.C., Creveaux I., Kitzis A.
2006-01-12
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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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The P574S/N1303K patient is a girl now 2 years old. A neonatal screening was positive. However, sweet tests are normal and she is presently in good health.
Two brothers are P574S/F508del. They both are CBAVD. They have no pulmonary or pancreatic troubles.
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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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