Mutation Details for c.1538A>G
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cDNA Name
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c.1538A>G
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Protein Name
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p.Asp513Gly
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Exon or Intron
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exon 11
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Legacy Exon or Intron
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exon 10
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D513G
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Other Details
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This mutation was detected by DGGE and identified by direct sequencing. It is not found in 200 other non-[delta]F508 CF chromosomes and 200 non-CF chromosomes tested. The mutation creates an HphI site. It was fond in a CBAVD patient. He carries a [delta]F508 on the other chromosome.
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Contributors
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Bienvenu T,
Bousquet S,
Vidaud D,
Beldjord C
1997-08-29
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Institute
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Groupe Hospitalier Cochin,
Paris, France
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Submitted Phenotype Details
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One patient (male,27), diagnosed at 26 years with CBAVD, is PS, has normal lung function and sweat chloride 87 mmol/l. He carries delF508 on the other allele.
(Bienvenu et all 1998 and pers.corr.Bienvenu)
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Reference
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Bienvenu et al. (NL#70)
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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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