Mutation Details for c.2188G>T
|
|
cDNA Name
|
c.2188G>T
|
|
Protein Name
|
p.Glu730X
|
|
Exon or Intron
|
exon 14
|
|
Legacy Exon or Intron
|
exon 13
|
|
|
E730X
|
|
Other Details
|
This is a nonsense mutation which is caused by a substitution of a G to a T at nucleotide position 2320 thereby creating a stop codon at amino acid position 730. This mutation has been detected once among 46 unrelated Belgian CF chromosomes.
|
|
Contributors
|
Cuppens H,
Marynen P,
Cassiman JJ
1992-07-15
|
|
Institute
|
University of Leuven
Leuven, Belgium
|
|
Submitted Phenotype Details
|
The mutation was identified in a male CF patient carrying N1303K on the other allele. No additional clinical information is available. (pers. corr. De Boeck)
|
|
Reference
|
Cuppens et al. 1993
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
