Mutation Details for c.451C>A
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cDNA Name
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c.451C>A
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Protein Name
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p.Gln151Lys
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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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Q151K
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Other Details
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Segregation analysis was not performed. Except F508del, no other mutation was found after extensive analysis of the CFTR coding regions.
Biochemical and phylogenic inspection of the amino-acid change suggest a possible deleterious effect.
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Contributors
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E. Girodon, C. Costa, M. Goossens
2004-10-06
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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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This mutation was identified at the heterozygous state in a CBAVD patient who carries F508del.
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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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