Mutation Details for c.3G>T
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cDNA Name
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c.3G>T
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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(ATT)
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Other Details
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M1I was previously reported by Axton and Brock (NL#61), but with a GA nucleotide change. This mutation was found in one nine-year old male, PI, with mild pulmonary disease. The other allele is [delta]F508. S10R, a change of a neutral amino acid for a basic one, was found in one 4 year old boy, PI, with moderate pulmonary disease. This mutation was found once on 174 non-[delta]F508 chromosomes.
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Contributors
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Hughes D,
Hill A,
Graham
1995-01-18
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Institute
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Belfast City Hospital,
Northern Ireland
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Submitted Phenotype Details
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One patient, diagnosed at 10, PI, mild lung disease
DelF508 on the other allele.
(Hughes et all 1996)
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Reference
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Hughes et al. (NL#65)
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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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