Mutation Details for c.2846A>T
|
|
cDNA Name
|
c.2846A>T
|
|
Protein Name
|
p.His949Leu
|
|
Exon or Intron
|
exon 17
|
|
Legacy Exon or Intron
|
exon 15
|
|
|
H949L
|
|
Other Details
|
The nucleotide change was found by DGGE followed by sequencing of both the strands. This mutation was identified in 4 male patients from Puglia, region of Southern Italy. This mutation was identified in cis with another mutation: H939R. This is a novel complex CFTR allele: H939R + H949L.
|
|
Contributors
|
Polizzi A., Santostasi T., Manca A., Logrillo V.P., Armenio L.
2005-11-17
|
|
Institute
|
Dipartimento di Biomedicina Eta Evolutiva- Laboratorio Fibrosi Cistica ? Policlinico- BARI - ITALY
|
|
Submitted Phenotype Details
|
The clinical picture of the 4 patients with the complex allele H939R + H949L is different; in the other hand the four cases have different genotype.(pers. corr. Polizzi)
|
|
Reference
|
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
