Mutation Details for c.3302T>G
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cDNA Name
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c.3302T>G
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Protein Name
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p.Met1101Arg
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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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M1101R
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Other Details
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A nucleotide change, T->G was observed in exon 17 b at position 3434 leading to M1101R. The Turkish patient is 9 years old, and pancreatic insufficient. The other chromosoem carries the [delta]F508 mutation.
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Contributors
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Lissens W,
Bonduelle M,
Liebaers I,
Ferec C,
Quere I,
Mercier B,
Audrezet MP
1992-05-12
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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 Turkish patient is 9 years old, and pancreatic insufficient. The other chromosoem carries the [delta]F508 mutation.(original note)
One Belgian CF patient is PI and carries deltaF508 on the other allele.(pers.corr. Ferec)
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Reference
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Mercier et al. 1993b
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