Mutation Details for c.3848G>A
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cDNA Name
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c.3848G>A
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Protein Name
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p.Arg1283Lys
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Exon or Intron
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exon 23
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Legacy Exon or Intron
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exon 20
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R1283K
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Other Details
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This mutation in exon 20 of the CFTR gene was caused by a G to A substitution at nucleotide 3980. This change creates a MboII site giving a similar pattern (fragments of almost the same sixe) as G1244E and destroys the same MnII site as W1282X. It was found on a french CF chromosomes bearing haplotype C and appears to be rare: 1 out of 1200 CF chromosomes and was never found on 200 normal chromosomes studied. As the Arginine at this position is not always conserved and as tis change is not severe we are not sure that this substitution is a disease causing mutation.
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Contributors
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Chevalier F,
Bozon D
1993-03-25
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Institute
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Hopital Debrousse
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Submitted Phenotype Details
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This patient (M) is 28y, has PI and severe lung disease.
S977P and 4012insT were both found on the other chromosome.
(Pers. corr. Bozon)
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Reference
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Chevalier & Bozon (NL#54)
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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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