Mutation Details for c.3475T>C
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cDNA Name
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c.3475T>C
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Protein Name
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p.Ser1159Pro
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Exon or Intron
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exon 22
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Legacy Exon or Intron
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exon 19
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S1159P
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Other Details
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The S1159P mutation was seen on 1 US Caucasian chromosome of 48 screened. ASo analysis revealed that this alteration was nto present on 171 non-CF Caucasian chromosomes. This missense mutation is compounded with the [delta]F508. The patient is a 44 year old female who was diagnosed at the age of 35 years. She is pancreatic sufficient, with moderate lung disease and sweat chloride concentration of 104 mmol/L.
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Contributors
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Macek MJr,
Hamosh A,
Davis CL,
Cutting GR
1993-05-18
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Institute
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Center for Medical Genetics
Baltimore, MD, USA
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Submitted Phenotype Details
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The CF patient (44, female)was diagnosed at 35 years of age. She is pancreatic sufficient, with moderate lung disease and sweat chloride 104 mmol/L. She carries DeltaF508 on the other allele.
(pers. corr. Macek)
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Reference
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Macek et al. (NL#55)
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