|
cDNA Name
|
c.2443G>T
|
|
Protein Name
|
p.Glu815X
|
|
Exon or Intron
|
|
|
Other Details
|
Because of the clinical findings, the p.Glu815* mutation was classified as a CF causing mutation.
|
|
Contributors and Institutes
|
| Instituto Venezolano de Investigaciones Cientificas | - | |
|
|
Submitted Phenotype Details
|
The p.Glu815* mutation was caused by the transversion of G to T at nucleotide position c.2444 in exon 13. It changes a glutamic acid to a stop codon at amino acid 815 of the protein. This mutation was found to be homozygotic in a third generation Venezuelan male patient. The patient has respiratory and gastric symptomatology that appeared for the first time at age 6 months, and he had two positive sweat chloride tests (111 and 108 mmol/L)
|
|
Reference
|
in prees
|
