Mutation Details for c.695T>A
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cDNA Name
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c.695T>A
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Protein Name
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p.Val232Asp
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Exon or Intron
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exon 6
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Legacy Exon or Intron
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exon 6a
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V232D
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Other Details
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This mutation was was detected by DGGE and identified by direct sequencing in the CFTR gene. The defect is a T to A change at nucleotide 827 in exon 6a which would lead to a valine-to-aspartic acid replacement in the protein sequence at residue 232. This nucleotide change has been found in an infertile man with CBAVD having neither manifestation of gastrointestinal nor pulmonary disease but with a sweat teat at mmol/
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Contributors
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Costes B,
Ghanem N,
Girodon E,
Goossens
1993-11-19
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Institute
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Unite de Recherches en Genetique Moleculaire et en Hematologie
Creteil, Fran
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Submitted Phenotype Details
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V232D was found in 2 patients, one male, 33y and one female, 25y also carrying deltaF508 on the other allele. They are PI, with moderate/mild lung disease. (pers. corr. Girodon)
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Reference
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Costes et al. (NL#60)
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