Mutation Details for c.3181G>C
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cDNA Name
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c.3181G>C
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Protein Name
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p.Gly1061Arg
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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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G1061R
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Other Details
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This mutation has been found in one among 50 non-[delta]F508 Cf chromosomes. Another substitution G->C at the same position has been already described by Mercier and colleagues (1993)
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Contributors
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Bienvenu T,
Cazeneuve C,
Tcherkoff L,
Kaplan JC,
Beldjord
1994-06-22
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Institute
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Hopitaux de Paris
Paris, Franc
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Submitted Phenotype Details
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One patient (female, 10) diagnosed at 6 with CF, is PI, has severe lung disease with Pseudomonas aeruginosa colonization, sweat chloride 78 mmol/m. She carries delF508 on the other allele. (pers. corr. Mercier)
One French CF patient carries K14X on the other allele. (pers. corr. Ferec)
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Reference
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Mercier et al. 1993b
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