Mutation Details for c.3200C>A
|
|
cDNA Name
|
c.3200C>A
|
|
Protein Name
|
p.Ala1067Asp
|
|
Exon or Intron
|
exon 20
|
|
Legacy Exon or Intron
|
exon 17b
|
|
|
A1067D
|
|
Other Details
|
This substitution involves a residue conserved among species, located in an intracellular loop, and affects the charge of the CFTR protein. It was found at the homozygous state in a patient originating from India, and having a classical severe form of CF. A1067D creates a MaeIII 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
|
A1067D was found in a homozygous 7y old male patient diagnosed at 3y, PI, wuth mild pulmonary disease and positive sweat chloride. (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.
|
|
|
|
|
