Mutation Details for c.1736A>G
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cDNA Name
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c.1736A>G
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Protein Name
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p.Asp579Gly
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Exon or Intron
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exon 13
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Legacy Exon or Intron
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exon 12
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D579G
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Other Details
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This missense mutation has been detected in an Italian patient through DGGE and direct sequencing. The mutation generates an Asp to Gly substitution (D579G) and creates a novel AvrII restriction site in the mutated allele. This mutation has been detected in a PS patient (maternal chromosome), associated with haplotype C; the paternal CF chromosome carries the [delta]F508 mutation. This mutation was found in one of 78 non-[delta]F508 Italian CF chromosomes and was not found in 32 normal chromosomes.
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Contributors
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Bordoni R,
Belloni E,
Cremonesi L
1993-02-22
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Institute
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Istituto di Ricovero e Cura a Carattere Scientifico
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Phenotype Information
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CFTR2
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Reference
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Ferrari et al. (NL#53)
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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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