Mutation Details for c.3G>A
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cDNA Name
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c.3G>A
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Protein Name
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p.Met1Ile
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Exon or Intron
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exon 1
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Legacy Exon or Intron
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exon 1
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M1I(ATA)
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Other Details
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This mutation lies on exon 1 in the initiation codon and at nucleotide position 135 G->A. Following the approved nomenclature, we have called this mutation M1I. M1I was detected by SSCP analysis followed by direct sequencing and has been confirmed by an N1a III restriction digest. This patient is aknown affected cystic fibrosis sufferer and carries the [delta]F508 mutation on the other chromosome. Unfortunately we do not have nay other clinical data on this patient at the present time.
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Contributors
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Axton RA,
Brock DJH
1994-03-30
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Institute
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University of Edinburgh
Edinburgh
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Submitted Phenotype Details
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Reference
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Axton & Brock (NL#61)
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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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