Mutation Details for c.3868C>T
|
|
cDNA Name
|
c.3868C>T
|
|
Protein Name
|
p.Pro1290Ser
|
|
Exon or Intron
|
exon 23
|
|
Legacy Exon or Intron
|
exon 20
|
|
|
P1290S
|
|
Other Details
|
The missense mutation was detected by DGGE and identified by direct sequencing. It was found on the paternal chromosome in a CBAVD patient, with his maternal chromosome carrying 3272-26A→G. The mutation was not observed in 218 other CFTR alleles from 109 healthy fertile males, 90 chromosomes from 45 CBAVD patients, 30 chromosomes from 15 children carrying one CF mutation and 10 chromosomes from 5 CF patients. This mutation creates an EcoRV restriction site.
|
|
Contributors
|
Grangeia A., Carvalho F., Fernandes S., Silva J., Sousa M., Barros A.
2006-04-06
|
|
Institute
|
Department of Genetics, Faculty of Medicine of Porto, Portugal
|
|
Submitted Phenotype Details
|
The patient was diagnosed with CBAVD at 27y, is PS, no pulmonary disease and sweat chloride 54 mmol/L. (Grangeia et al., 2005)
|
|
Reference
|
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
