Mutation Details for c.535C>A
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cDNA Name
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c.535C>A
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Protein Name
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p.Gln179Lys
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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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Q179K
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Other Details
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This mutaion was detected by TTGE and DNA sequencing. It was found in a Hispanic cystic fibrosis patient. He had W1089X mutaion on the other allele. The patient had severe sinusitis aspergillosis, and poor weightgain.
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Contributors
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Zhang Y, Wong L submitted on Jan 1st, 2000. updated on Jan 21, 2000.
2000-01-21
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Institute
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Institute for Molecular and Human Genetics
Georgetown University Medical Center,
Washington DC, USA
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Submitted Phenotype Details
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One patient (male) died at 31 , was diagnosed at 6 months of age, was PI, severe lung disease (FEV1 26% at 29 yrs), sweat chloride 79 mEq/l, sinusitis, poor weight gain, PA colonisation.
W1089X on the other allele.
(Wang et all 2000 and pers. corr. Wang)
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Reference
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Zhang & Wong 2000
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To check if there are any papers published about this mutation/variant on PubMed, please click here.
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