PMID: 26358851

Nefzi M, Hadj Fredj S, Tebib N, Barsaoui S, Boussetta K, Siala H, Messaoud T
Contribution of M470V variant to cystic fibrosis: First study in CF and normal Tunisian population.
Pathol Biol (Paris). 2015 Sep;63(4-5):169-74. doi: 10.1016/j.patbio.2015.07.004. Epub 2015 Sep 8., [PubMed]
Sentences
No. Mutations Sentence Comment
106 ABCC7 p.Asn1303Lys
X
ABCC7 p.Asn1303Lys 26358851:106:128
status: NEW
view ABCC7 p.Asn1303Lys details
ABCC7 p.Gly542*
X
ABCC7 p.Gly542* 26358851:106:143
status: NEW
view ABCC7 p.Gly542* details
ABCC7 p.Glu1104*
X
ABCC7 p.Glu1104* 26358851:106:158
status: NEW
view ABCC7 p.Glu1104* details
 Genotype analysis We identified five CF mutations in our cohort: F508del mutation (63.20%), which is the most frequent mutation N1303K (4.4%), G542X (2.94%), E1104X (2.94%) and 1524 + 5insC (1.47%) utilizing the obtained data from previously carried out molecular study using different techniques (DGGE, DHPLC and sequencing) [7]. Login to comment 157 ABCC7 p.Arg1453Trp
X
ABCC7 p.Arg1453Trp 26358851:157:0
status: NEW
view ABCC7 p.Arg1453Trp details
 R1453W may not generate CF-related disease by itself but its association in the V470/V470 genotype may reduce the total CFTR function to less than 50% [14]. Login to comment