Mutation Details for c.276A>T
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cDNA Name
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c.276A>T
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Protein Name
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p.Glu92Asp
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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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E92D
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Other Details
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The patient carries two other mutations: 3849+10kbC>T and R668C (2134C>T). Although segregation analysis was not performed, we suggest the putative 3849+10kbC>T;R668C/E92D compound genotype in the patient, as we already found the complex allele 3849+10kbC>T;R668C in another patient.
Residue E92 is conserved between species but not in other proteins of the CFTR family, where Asp can be found instead. A mild splicing effect of the mutation is also possible.
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Contributors
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E. Girodon, F. Niel, 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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E92D was identified at the heterozygous state in a 78 yrs old patient having a mild and late presentation of CF, with disseminated bronchiectasis and pancreatic insufficiency. Sweat chloride values were around 40 mEq/l.
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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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