Mutation Details for c.1580A>G
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cDNA Name
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c.1580A>G
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Protein Name
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p.Glu527Gly
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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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E527G
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Other Details
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The mutation was found by DGGE analysis followed by sequencing, and confirmed with a Restriction Enzyme Analysis: it destroys a MboII restriction site. It was found once out of 36 chromosomes from neonates with transient hypertrypsinaemia and heterozygotes for a CF mutation.The mutation on the other
chromosome of the patient is [delta]F508. The mutation was absent in 120 control chromosomes, in 102 chromosomes of Chronic Obstructive Pulmonary Disease patients and in 46 chromosomes of Diffuse Bronchiectasis patients.
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Contributors
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Benetazzo MG,
Bombieri C,
Castellani C,
Pignatti PF.
1998-05-26
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Institute
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Ist. Biologia e Genetica, Universita' di Verona
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Submitted Phenotype Details
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The patient (0.1 yrs, male)presented with neonatal hypertrypsinaemia, no meconiumileus, is PS and has normal sweat chloride. He has delF508 on the other allele.
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Reference
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Benetazzo et al. (NL#70)
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