Mutation Details for c.2446delA
|
Note: this mutation was submitted but not yet reviewed by our curator.
|
|
cDNA Name
|
c.2446delA
|
|
Protein Name
|
p.Thr816LeufsX5
|
|
Exon or Intron
|
|
|
Other Details
|
The patient originates from the Markazi province,
located between the centre and west of Iran.
|
|
Contributors and Institutes
|
| Reza Alibakhshi and Roya Kianishirazi | - | Department of Biochemistry, School of Medicine, Kermanshah University of Medical Sciences, Kermanshah, Iran. | | Mahdi Zamani | - | Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran. | | Jean-Jacques Cassiman and Harry Cuppens | - | Center for human Genetics, KULeuven, Herestraat 49 (602), 3000 Leuven, Belgium. |
|
|
Submitted Phenotype Details
|
The c.2576delA frame-shift mutation was found in exon 13
of the CFTR gene, and will result in a stop codon five codons downstreamof the mutation site. It was found once in a patient that carried S1455X in compound heterozygosity. CF was diagnosed at the age of 4 years and the patient has a classical CF phenotype.
|
|
Reference
|
Alibakhshi R, Kianashirazi R, Jean-Jasques C, Zamani M, Cuppens H. Analysis of the CFTR gene in Iranian cystic fibrosis patients:Identification of eight novel mutations. J Cystic Fibrosis . 2008;7:102–109.
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
