Mutation Details for c.940G>C
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cDNA Name
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c.940G>C
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Protein Name
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p.Gly314Arg
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Exon or Intron
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exon 8
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Legacy Exon or Intron
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exon 7
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G314R
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Other Details
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This mutation was detected by chemical mismatch and sequencing. The mutation is a G to C change at nucleotide 1072. This results in a glycine to arginine substitution at amino acid 314 (G314R). It is in exon 7 and it eliminates a DdeI restriction site.
This mutation was found in a patient with an American Indian/Caucasian mother and Dutch/French father. This patient has a [delta]F508 mutation on the other chromosomes and is pancreatic insufficient. This mutation was not found in 25 normal chromosomes and 25 CF chromosomes.
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Contributors
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Nasr S,
Strong T,
Smit L,
Collins F
1993-07-01
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Institute
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University of Michigan
Ann Arbor MI, USA
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Submitted Phenotype Details
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Reference
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Nasr et al. (NL#56)
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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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