Mutation Details for c.3503A>G
|
|
cDNA Name
|
c.3503A>G
|
|
Protein Name
|
p.Asp1168Gly
|
|
Exon or Intron
|
exon 22
|
|
Legacy Exon or Intron
|
exon 19
|
|
|
D1168G
|
|
Other Details
|
The D1168G mutation was detected on 1 US caucasian CF chromosome out of 48 screened. ASO analysis of 176 non-CF Caucasian chromosomes did not detect this mutation on any tested chromosomes. This mutation is on the maternal CF chromosome which also bears the I506V polymorphism. The 4 year old male CF patient has suffered from repeated episodes of pneumonia. However, his sweat chloride concentrations are in normal range (30mM).
|
|
Contributors
|
Macek MJr,
Sedriks S,
Kiesewetter S,
Sedriks S,
Cutting GR
1993-08-20
|
|
Institute
|
Center for Medical Genetics
Baltimore, MD, USA
|
|
Submitted Phenotype Details
|
The CF patient (male, 4y) had repeated episodes of pneumonia, sweat chloride concentrations are in normal range (30mM).He carries the I506V polymorphism on the other allele.
(pers. corr. Macek)
|
|
Reference
|
Macek et al. (NL#58)
|
To check if there are any papers published about this mutation/variant on PubMed, please click here.
|
|
|
|
|
