Mutation Details for c.1518C>G
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cDNA Name
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c.1518C>G
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Protein Name
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p.Ile506Met
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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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1650C/G
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Other Details
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NL#50: Although this mutation was idenitified in a CF patient carrying the [delta]F508 mutation on the other chromosome, we think that this is probably a rare polymorphism (1/1000 CF chromosomes) as there is a methionine at this position in 2 other related proteins: maltose and ribose transporters of E.Coli.
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Contributors
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ChevalierF,
Bozon D
1992-10-24
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Institute
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Hopitaux de Lyon
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Submitted Phenotype Details
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1650C/g was found in a male also carryind the deltaF508, born 1976 CF wasn't confirmed in the patient. (pers. corr. Bozon)
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Reference
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Chavelier & Bozon (NL#50)
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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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