Mutation Details for c.1840G>T
|
|
cDNA Name
|
c.1840G>T
|
|
Protein Name
|
p.Asp614Tyr
|
|
Exon or Intron
|
exon 14
|
|
Legacy Exon or Intron
|
exon 13
|
|
|
D614Y
|
|
Other Details
|
This substitution involves a residue conserved among species and affects the charge of the CFTR protein. It was found in a CF patient heterozygous for 1677delTA (the assignement was not possible), and presenting with a severe classical form. D614Y creates a HindIII restriction site.
|
|
Contributors
|
Girodon E,
Cazeneuve C,
Sternberg D,
Costes B,
Goossens M
1999-11-23
|
|
Institute
|
Service de Biochimie-Genetique
Hopital Henri-Mondor,
France
|
|
Submitted Phenotype Details
|
D614Y was found in a patient carrying 1677delTA on the other allele. he was 33y, diagnosed at 8y, PI with severe phenotype. (pers. corr. Girodon)
|
|
Reference
|
Girodon et al. 1999
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
