Mutation Details for c.2249C>T
|
|
cDNA Name
|
c.2249C>T
|
|
Protein Name
|
p.Pro750Leu
|
|
Exon or Intron
|
exon 14
|
|
Legacy Exon or Intron
|
exon 13
|
|
|
P750L
|
|
Other Details
|
This missense was found in a fetus with echogenic abnormalities. No other mutation was found.P750L is probably a CF mutation as Proline at this position is conserved in 5 species.
|
|
Contributors
|
Chevalier-Porst F,
Bozon D
2000-04-25
|
|
Institute
|
Biochimie Pediatrique
Hopital Debrousse,
Lyon France
|
|
Submitted Phenotype Details
|
One patient (M) is older than 2mo, has PI and chronic lung disease.
DeltaF508 was found on the other allele. (Orozco et al. 2000)
One patient (M) is 8y, has asthma and elevated sweat-chloride levels (90mM/l). Nothing is known about his pancreatic status.
DeltaF508 was found on the other allele. (Pers. corr. Bozon)
One patient (male) was diagnosed when 10 years old. He has asthma, is PI and carries an unknown other mutation. (pers.corr. Wagner)
|
|
Reference
|
Chevalier-Porst & Bozon 2000
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
