Mutation Details for c.3176T>G
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cDNA Name
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c.3176T>G
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Protein Name
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p.Leu1059X
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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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L1059X
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Other Details
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The T->G transversion at nucleotide 3308 was detected in a 19 ys. old female German CF patient with R553X on the other chromosome. She was diagnosed by the age of 9 ys and now suffers from moderate pancreatic insufficiency and airways' colonisation with Pseudomonas aeruginosa. L1059X co-inherited with tbe XV-2c/KM.19 haplotype C and with seven GATT repeats. The mutation destroys recognition sites for HindII and MseI. L1059X was found once among 76 German non-[delta]F508 CF chromosomes.
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Contributors
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Dork T,
Tummler B
1993-01-19
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Institute
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Medizinische Hochschule Hannover
Hannova, Germany
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Submitted Phenotype Details
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The patient (female, 20) was diagnosed at 9.9y with CF, she is PI, has moderate lung disease and Pseudomonas Aeruginosa infections. She carries R553X on the other allele.
(pers. corr. Doerk)
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Reference
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Dörk et al. 1994b
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