Mutation Details for c.3461A>G
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cDNA Name
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c.3461A>G
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Protein Name
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p.Asp1154Gly
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Exon or Intron
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exon 21
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Legacy Exon or Intron
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exon 18
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D1154G
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Other Details
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A new substitution was detected in the CFTR by DGGE and identified by direct sequencing. The defect is A to G change at nucleotide 3593 in exon 18 which would lead to an aspartic acid to glycine replacement in the protein sequence at residue 1154 (D1154G). This mutation has been found in an infertile man with CBAVD carrying the [delta]F508 mutation on the other allele.
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Contributors
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Costes B,
Girodon E,
Ghanem N,
Goossens M
1994-10-24
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Institute
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Institut National de la Sante et de la Recherche Medicale
France
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Submitted Phenotype Details
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D1154G was found in a 47y old male with CBAVD, also carrying deltaF508 on the other allele. He was diagnosed at 37y, is PS, had negative sweat chloride. (pers. corr. Girodon)
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Reference
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Costes et al. (NL#64)
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