Mutation Details for c.496A>G
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cDNA Name
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c.496A>G
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Protein Name
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p.Lys166Glu
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Exon or Intron
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exon 5
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Legacy Exon or Intron
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exon 5
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K166Q
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Other Details
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The K166Q mutation was detected in a 16 year old female Korean CF patient. She also inherited the [delta]F508 mutation from her caucasian father. ASO hybridization screening did not detect the K166Q mutation among 47 normal chromosomes of Asian descent. The patient was diagnosed at the age of 10 years with sweat chloride concentration of 111mM. She has mild lung disease and is pancreatic sufficient.
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Contributors
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Macek MJr,
Mackova A,
Sedriks SE,
Egan ME,
Cutting GR
1994-06-01
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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 patient carrying K166E is PS, has mild lung disease and sweat chloride of 111 mmol/l.
DelF508 is on the other allele.
(pers. corr. Macek)
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Reference
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Macek et al. (NL#62;#66)
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