Mutation Details for c.420_421insA
|
|
cDNA Name
|
c.420_421insA
|
|
Protein Name
|
p.Ala141SerfsX18
|
|
Exon or Intron
|
exon 4
|
|
Legacy Exon or Intron
|
exon 4
|
|
|
552insA
|
|
Other Details
|
A new framshift mutation was found in exon 4 of the CFTR gene. The change is an insertion of adenine at position 552. The insertion introduces a termination codon (TAG) at amino acid position 158. The mutation has been detected by SSCp analysis, followed by direct sequencing of amplification product. This CF patient was a 1 year old child with severe pulmonary involvement. his genotype was found, thus determined as [delta]F508/552insA.
|
|
Contributors
|
Ivaschenko TE,
Bakay M,
Baranov VS
1993-12-07
|
|
Institute
|
null
|
|
Submitted Phenotype Details
|
|
|
Reference
|
Ivaschenko et al. (NL#60)
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
