Mutation Details for c.577G>A
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cDNA Name
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c.577G>A
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Protein Name
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p.Glu193Lys
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Exon or Intron
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exon 5
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Legacy Exon or Intron
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exon 5
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E193K
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Other Details
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This missense mutation has been detected in an Italian CF patient through DGGE and direct sequencing. This mutation has been detected in a PS patient (maternal chromosome), associated with haplotype C; the paternal chromosome carries the [delta]F508 mutation. This mutation was found in onw out of 29 non-[delta]F508 Italian CF chromosomes and was not found in 11 normal chromosomes.
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Contributors
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Pappalardo E,
Cremonesi L,
Ferrari M
1994-04-08
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Institute
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Istituto di Ricovero e Cura a Carattere Scientifico
Milano, Italy
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Submitted Phenotype Details
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The patient (male, 22) was diagnosed at 20 y, sweat chloride 82mmol/l, PS, mild lung disease (chronic bronchitis with chest X-Ray normal). DelF508 on the other allele.
(pers.corr. Cremonesi)
The mutation was identified in a Italian CF patient (pers.corr.Ferec)
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Reference
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Ferrari et al. (NL#62); et al. Mercier et al. 1995
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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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