Mutation Details for c.1584G>T
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cDNA Name
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c.1584G>T
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Protein Name
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p.Glu528Asp
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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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E528D
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Other Details
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This mutation may affect the normal splicing of intron 10. It was found in a CBAVD patient bearing [delta]F508 on the other chromosome. Laboratories must be aware of this mutation which abolishes an EarI restriction site, as E528E (1716G/A) does, and which shows the same DGGE pattern.
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Contributors
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Girodon E,
Cazeneuve C,
Sternberg D,
Costes B,
Goossens M
1999-11-23
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Institute
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Service de Biochimie-Genetique
Hopital Henri-Mondor,
France
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Submitted Phenotype Details
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E528D was found in a male patient with CBAVD also carrying deltaF508 on the other allele. (pers. corr. Girodon)
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Reference
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Girodon et al. 1999
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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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