Mutation Details for c.727A>C
|
|
cDNA Name
|
c.727A>C
|
|
Protein Name
|
p.Met243Leu
|
|
Exon or Intron
|
exon 6
|
|
Legacy Exon or Intron
|
exon 6a
|
|
|
M243L
|
|
Other Details
|
The mutation was found by screening CFTR mutations in 25 patients with diffuse panbronchiolitis using SSCP analysis and direct sequencing.
It was detected in one of the CFTR alleles of a single patient with diffuse panbronchiolitis.
|
|
Contributors
|
Yoshimura K
1999-03-15
|
|
Institute
|
Department of Gene Therapy
Institute of DNA Medicine,
Jikei University School of Medicine,
Tokyo, Japan
|
|
Submitted Phenotype Details
|
(Pers. corr. Yoshimura)
Patient (F) is 66y, has PS, severe lung disease (diffuse panbronhiolitis and negative sweat-chloride (32.8mM/l) tests.
No other mutations were found.
|
|
Reference
|
Yoshimura 1999
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
