Mutation Details for c.1327G>T
|
|
cDNA Name
|
c.1327G>T
|
|
Protein Name
|
p.Asp443Tyr
|
|
Exon or Intron
|
exon 10
|
|
Legacy Exon or Intron
|
exon 9
|
|
|
D443Y
|
|
Other Details
|
This mutation has been found in one among 50 non-[delta]F508 CF chromosomes. Another substitution G->A at the same position has been already described by Costes et al (NL #60). The patient is an infertile man with congenital bilateral absence of the vas deferens. He has [delta]F508 mutation on the other chromosome.
This mutation is frequently observed in CBAVD patients (4 cases) and in patients with idiopathic chronic pancreatitis (2 cases). This mutation is frequently associated in cis with other missense mutations (G576A and R668C).
|
|
Contributors
|
Bienvenu T,
Cazeneuve C,
Kaplan JC,
Beldjord C
1994-10-02
|
|
Institute
|
Hopitaux de Paris
Paris, France
|
|
Submitted Phenotype Details
|
The patient (male, 42y) was diagnosed at 35y with CBAVD. He is PS, has mild respiratory symptoms with FEV1 114%, FVC 112%. Sweat chloride concentration was 31 mEq/L and nasal potential difference was considered as normal (20 mV). He carries as well the delF508 and G576A mutations.
(pers. corr. Bienvenu)
|
|
Reference
|
Bienvenu et al. (NL#63)
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
