ABCMdb

PMID: 15829248

Lee JE, Choi JH, Lee JH, Lee MG
Gene SNPs and mutations in clinical genetic testing: haplotype-based testing and analysis.
Mutat Res. 2005 Jun 3;573(1-2):195-204., [PubMed]

Sentences

No. Mutations Sentence Comment

712 ABCC7 p.Asn1303Lys ABCC7 p.Gly542* Several mutations of the CFTR gene, such as F508del, G542X and N1303K are associated with the severe CF phenotypes and display a high disease penetrance [23]. Login to comment 713 ABCC7 p.Asn1303Lys ABCC7 p.Gly542* Several mutations of the CFTR gene, such as F508del, G542X and N1303K are associated with the severe CF phenotypes and display a high disease penetrance [23]. Login to comment 721 ABCC7 p.Gln1352His Interactions between M470V and Q1352H in human CFTR gene. Login to comment 722 ABCC7 p.Gln1352His Interactions between M470V and Q1352H in human CFTR gene. Login to comment 725 ABCC7 p.Gln1352His M470V is located in NBD1 and Q1352H in NBD2. Login to comment 726 ABCC7 p.Gln1352His M470V is located in NBD1 and Q1352H in NBD2. Login to comment 738 ABCC7 p.Gln1352His Recently, a couple of studies reported a high incidence of Q1352H mutation in chronic pancreatitis patients in Korea and Japan [22,29]. Login to comment 739 ABCC7 p.Gln1352His ABCC7 p.Gln1352His Recently, a couple of studies reported a high incidence of Q1352H mutation in chronic pancreatitis patients in Korea and Japan [22,29]. Login to comment 740 ABCC7 p.Gln1352His A haplotype reconstruction using the population genotype data revealed that the Q1352H mutation always arises in the V470 background. Login to comment 741 ABCC7 p.Gln1352His However, in the V470 background, the Q1352H mutation almost completely abolished the anion transporting activities, which explains the high disease association of this mutant in the real population [22] (Fig. 1B). Login to comment 742 ABCC7 p.Gln1352His However, in the V470 background, the Q1352H mutation almost completely abolished the anion transporting activities, which explains the high disease association of this mutant in the real population [22] (Fig. 1B). Login to comment 743 ABCC7 p.Gln1352His ABCC7 p.Gln1352His The reasons for the complete reduction in the functional activities of V470-H1352 haplotype are unclear atthismoment.Aplausiblescenarioisthat,M470Vand Q1352H might be involved in the cross talk and/or interaction between the two nucleotide-binding domains (NBDs) of CFTR, because M470V and Q1352H are located in the NBD1 and NBD2, respectively (Fig. 1A). Login to comment 744 ABCC7 p.Gln1352His ABCC7 p.Gln1352His The reasons for the complete reduction in the functional activities of V470-H1352 haplotype are unclear atthismoment.Aplausiblescenarioisthat,M470Vand Q1352H might be involved in the cross talk and/or interaction between the two nucleotide-binding domains (NBDs) of CFTR, because M470V and Q1352H are located in the NBD1 and NBD2, respectively (Fig. 1A). Login to comment 746 ABCC7 p.Gln1352His Therefore, on top of the NBD1 defect induced by M470V, an additional NBD2 defect of Q1352H would deteriorate the CFTR function even further. Login to comment 747 ABCC7 p.Gln1352His Therefore, on top of the NBD1 defect induced by M470V, an additional NBD2 defect of Q1352H would deteriorate the CFTR function even further. Login to comment 748 ABCC7 p.Asn1303Lys ABCC7 p.Gly542* It was observed that the three most common disease-causing mutations, F508del, G542X and N1303K are found in a specific haplotype background (haplotype IIIa by Cuppens et al. [23]). Login to comment 749 ABCC7 p.Asn1303Lys ABCC7 p.Gly542* It was observed that the three most common disease-causing mutations, F508del, G542X and N1303K are found in a specific haplotype background (haplotype IIIa by Cuppens et al. [23]). Login to comment 830 ABCC8 p.Ser734Ala The case-control analysis demonstrated that an exon 10-12 SNP cluster (S734A and M1027V) and an exon 33 SNP (R1980W) were significantly associated with AITD. Login to comment 831 ABCC8 p.Ser734Ala The case-control analysis demonstrated that an exon 10-12 SNP cluster (S734A and M1027V) and an exon 33 SNP (R1980W) were significantly associated with AITD. Login to comment