Mutation Details for c.4147_4148insA
|
|
cDNA Name
|
c.4147_4148insA
|
|
Protein Name
|
p.Ile1383AsnfsX3
|
|
Exon or Intron
|
exon 26
|
|
Legacy Exon or Intron
|
exon 23
|
|
|
4279insA
|
|
Other Details
|
A new frameshift mutation was found in exon 23 of CFTR. The mutation is an inserion of a single A base after residue 4279 (4279insA), a premature stop codon is created, commencing 5bp downstream of this insertion. 4279insA was detected by SSCP/heteroduplex analysis followed by direct sequencing and we observed this mutation only once in our panel of English CF patients. Interestingly we observed this mutation on a CFTR allele with the 297-3c->T putative splice mutation reported by Bienvenu et al (NL #55). As this is the only patient we have with either of these mutations and we have not carried out any expression work we are unsure as to whether this is a recurrent mutation or means that 297-3c->T is a polymorphism.
|
|
Contributors
|
Wallace A,
Tassabehji M
1994-01-21
|
|
Institute
|
St. Mary's Hospital
Manchester, UK
|
|
Submitted Phenotype Details
|
|
|
Reference
|
Wallace & Tassabehji (NL#61)
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
