Mutation Details for c.926C>A
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cDNA Name
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c.926C>A
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Protein Name
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p.Ala309Asp
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Exon or Intron
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exon 8
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Legacy Exon or Intron
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exon 7
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A309D
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Other Details
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The mutation is the C1058A substitution in exon 7, changing alanine 309 to aspartic acid. This mutation has been detected in the maternal CF chromosome of a PS patient originating from Southern Italy (Sicily) and carrying the [delta]F508 mutation on the other chromosome.
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Contributors
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Ferrari M,
Seia M,
Russo S,
Corbetta C
1994-11-22
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Institute
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Instituto di Ricovero e cura a Carattere Scientifico
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Submitted Phenotype Details
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The patient (8y, male) was diagnosed at 1y and 3m, is PS, has sweat chloride of 43-64 mmol/l and mild pulmonary disease (FEV1=93%)and neonatal hypertrypsinaemia, coeliac disease, allergy to food. DelF508 on the other allele.
(pers. corr. Cremonesi)
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Reference
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Ferrari et al. (NL#64)
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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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