Mutation Details for c.4202A>G
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cDNA Name
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c.4202A>G
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Protein Name
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p.Glu1401Gly
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Exon or Intron
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exon 26
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Legacy Exon or Intron
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exon 23
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E1401G
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Other Details
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The mutation was identified in a CBAVD patient who was also found to carry deltaF508. No segregation analysis was performed yet. No other CFTR mutation was found after extensive screening of the coding regions. Biochemical and phylogenic inspection of the amino-acid change suggest a deleterious effect of E1401G.
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Contributors
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E. Girodon, M. Legendre, C. Costa, M. Goossens
2006-08-25
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Institute
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Biochimie-Genetique, hopital Henri-Mondor, Creteil, France
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Submitted Phenotype Details
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CBAVD. Whether the patient has other minor CF symptoms has not been investigated yet.
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Reference
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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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