Mutation Details for c.235T>C
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cDNA Name
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c.235T>C
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Protein Name
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p.Trp79Arg
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Exon or Intron
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exon 3
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Legacy Exon or Intron
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exon 3
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W79R
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Other Details
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The W79R mutation was detected on 1 chromosome in a CF patient of Swedish origin who carries a [delta]F508 mutation on the other allele. This alteration has not been observed on 179 US-Caucasian non-CF chromosomes by ASO analysis. The patient is a 12 year old male who was diagnosed at the age of one year old with sweat chloride concentration of 93 mM. He is pancreatic insufficient and suffers from mild lung disease complicated by Pseudomonas Aeruginosa infection.
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Contributors
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Macek MJr,
Davis C,
Hamosh A,
Anvret M,
Cutting GR
1993-07-19
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Institute
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Johns Hopkins Medical Institutions
Baltimore, MD, USA
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Submitted Phenotype Details
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The patient (male, 8) was diagnosed during the first year of life. He is PI, has mild pulmonary disease, and sweat chloride 93 mmol/l.
DelF508 on the other allele.
(pers. corr. Macek)
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Reference
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Macek et al. (NL#56)
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