Mutation Details for c.484A>G
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cDNA Name
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c.484A>G
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Protein Name
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p.Lys162Glu
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Exon or Intron
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exon 4
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Legacy Exon or Intron
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exon 4
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K162E
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Other Details
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This mutation was detected by DGGE and direct sequencing.
K162E was found in one CF patient of Greek origin, among 250 screened. Her other CF mutation is [delta]F508. The patient is an adult mother of two children, she is PS and had borderline sweat test (48mEq/L). She was referred to us for CF mutation screening before her second pregnancy because of the presence of CF child in the immediate family. K162E was not detected among more than 100 normal chromosomes screened.
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Contributors
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Tzetis M,
Antoniadi Th,
Kanavakis E
1998-02-02
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Institute
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St. Sophia's Children's Hospital,
Athens, Greece
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Submitted Phenotype Details
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Patient (F) is an adult, has PS, no pulmonary symptoms and borderline sweat-chloride levels.
DeltaF508 was found on the other allele.
(Pers. corr. Tzetis)
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Reference
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Tzetis et al. (NL#70)
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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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