Mutation Details for c.2754T>G
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cDNA Name
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c.2754T>G
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Protein Name
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p.Ile918Met
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Exon or Intron
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exon 17
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Legacy Exon or Intron
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exon 15
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I918M
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Other Details
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This substitution, located in a transmembrane domain and which seems conservative, was found in cis with F1052V in a CBAVD patient carrying [delta]F508 on the other chromosome. F1052V was initially described in a CF patient but it is not known if the patient carried also I918M. Functional studies could demonstrate the non deleterious or deleterious effect of the mutation. I918M creates a RsaI or NlaIII restriction site.
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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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I918M was found in a 36y M, diagnosed at 29y with CBAVD; he also had rhinosinusitis. I918M in cis with F1052V and deltaF508 was on the other allele. (pers.corr. Girodon)
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Reference
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Girodon et al. 1999
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