Mutation Details for c.940G>C
|
cDNA Name
|
c.940G>C
|
Protein Name
|
p.Gly314Arg
|
Exon or Intron
|
exon 8
|
Legacy Exon or Intron
|
exon 7
|
|
G314R
|
Other Details
|
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.
|
Contributors
|
Nasr S,
Strong T,
Smit L,
Collins F
1993-07-01
|
Institute
|
University of Michigan
Ann Arbor MI, USA
|
Submitted Phenotype Details
|
|
Reference
|
Nasr et al. (NL#56)
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|