Mutation Details for c.4333G>A
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cDNA Name
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c.4333G>A
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Protein Name
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p.Asp1445Asn
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Exon or Intron
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exon 27
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Legacy Exon or Intron
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exon 24
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D1445N
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Other Details
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Consequence: Missence mutation. The G to A substitution at nucleotide 4465 results in the replacement of Aspartic acid for Asparagine at amino acid 1445. The mutation has not been found in 56 normal chromosomes screened.
Frequency: 0.2% (1/500 chromosomes)
Patient data: Genotype: D1445N/Unknown
The trans mutation of the patient remains unknown
although he has been screened for all the exons and
intron-exon boundaries.
Age at diagnosis: 2 yrs
Current age: 16 yrs
Chloride sweat test: 110mEq/L
He is pancreatic insufficient and has chronic cough.
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Contributors
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Antoniadi T,
Tzetis M,
Kanavakis E
1996-10-07
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Institute
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Athens University, First Dept of Pediatrics, Unit of Molecular Medicine
St. Sophias Children Hospital
Athens, Greece.
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Submitted Phenotype Details
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Patient (M) is 21y, has PI, mild lung disease (with chronic cough) and sweat-chloride levels of 110mEq/l.
The other mutation is unknown.
(Pers. corr. Tzetis)
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Reference
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Antoniadi et al. (NL#69)
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