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cDNA Name
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c.3847A>G
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Protein Name
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p.Arg1283Gly
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Exon or Intron
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exon 23
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Other Details
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The patient’s other mutation is F508del.
Missense mutation Arginine to Glycine at codon 1283. Predicted by PolyPhen as Probably Damaging; Align GVGD classifies it as C65 (most likely to interfere with function); highly conserved nucleotide and amino acid.
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Contributors and Institutes
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| Chris Charlton | - | Regional Molecular Genetics LaboratoryDept of Medical GeneticsSt Mary’s HospitalManchester EnglandM13 0JH | | Emma Brownsell | - | Regional Molecular Genetics LaboratoryDept of Medical GeneticsSt Mary’s HospitalManchester EnglandM13 0JH | | Mike Bulman | - | Regional Molecular Genetics LaboratoryDept of Medical GeneticsSt Mary’s HospitalManchester EnglandM13 0JH | | Jo Brock | - | Regional Molecular Genetics LaboratoryDept of Medical GeneticsSt Mary’s HospitalManchester EnglandM13 0JH | | Megan Adaway | - | Regional Molecular Genetics LaboratoryDept of Medical GeneticsSt Mary’s HospitalManchester EnglandM13 0JH | | Martin Schwarz | - | Regional Molecular Genetics LaboratoryDept of Medical GeneticsSt Mary’s HospitalManchester EnglandM13 0JH |
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Submitted Phenotype Details
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The mutation was found in a patient, now 3 months old, who presented with meconium ileus. No other clinical information is known.
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Reference
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