Mutation Details for c.1579G>C
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cDNA Name
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c.1579G>C
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Protein Name
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p.Glu527Gln
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Exon or Intron
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exon 11
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Legacy Exon or Intron
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exon 10
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E527Q
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Other Details
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The mutation was detected by SSCP/heteroduplex analysis and identified by direct DNA sequencing. The mutation was seen in heterozygous form in a patient thought to be mildly affected with CF, with age of onset at 20 years, chronic bronchietasis, malabsorption and x-ray findings suggestive of CF. Her other mutation is [delta]F508. We have seen it only once in this patient referred by the Leicester Genetic Center at Leicester among over 200 non-[delta]F508 chromosomes screened.
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Contributors
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Byrne K,
Malone G,
Haworth A,
Schwarz M
1997-08-22
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Institute
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Royal Manchester Children's Hospital, England
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Submitted Phenotype Details
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One female CF patient, born in 1941,diagnosed with chronic bronchiectasis and malabsorption at 20 yrs.
(pers.corr. Schwarz)
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Reference
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Byrne et al. (NL#70)
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