ABCMdb

PMID: 16134171

Cohn JA, Neoptolemos JP, Feng J, Yan J, Jiang Z, Greenhalf W, McFaul C, Mountford R, Sommer SS
Increased risk of idiopathic chronic pancreatitis in cystic fibrosis carriers.
Hum Mutat. 2005 Oct;26(4):303-7., [PubMed]

Sentences

No. Mutations Sentence Comment

9 ABCC7 p.Arg75Gln A variant allele of uncertain significance (p.R75Q) was detected in eight of the 52 ICP subjects and at a similar frequency (13/96) in random donors. Login to comment 39 ABCC7 p.Arg75Gln To determine the frequency of the p.R75Q CFTR variant in healthy controls, 96 random donors from the United Kingdom were tested. Login to comment 63 ABCC7 p.Arg75Gln p.R75Q was detected nine times in eight subjects (allele frequency: 9/104). Login to comment 65 ABCC7 p.Arg1162Leu Two other variants of uncertain significance (p.R1162L and c.1584G4A (1716G4A)) were also detected in the tested ICP subjects. Login to comment 93 ABCC7 p.Gly542* ABCC7 p.Arg560Thr ABCC7 p.Ser1235Arg ABCC7 p.Asp1152His ABCC7 p.Asp1152His ABCC7 p.Leu997Phe ABCC7 p.Leu967Ser ABCC7 p.Leu967Ser ABCC7 p.Ala209Ser ABCC7 p.Val920Met Abnormal CFTR Genotypes Detected in 52 Patients with ICPa Genotype categorya ] Patients Genotypes detectedb Compound heterozygotes and homozygotes 3 p.F508del / p.L967S p.D1152H / p.D1152H p.V920M / p.L967S Heterozygotes, common mutation causing classic CFa 7 p.F508del /^ ('ve subjects)c p.R560T/^ p.G542X /^ Heterozygotes, uncommon mutation causing variable phenotype 3 p.S1235R /^ p.A209S /^ p.L997F/^ Heterozygotes, common CBAVD-associated mutation 2 IVS8(5T) /^ (two subjects) a Common CF-mutations consistently cause classic CF in compound heterozygotes and homozygotes [Rosenstein and Cutting, 1998]. Login to comment 96 ABCC7 p.Arg75Gln ABCC7 p.Arg1162Leu b The following polymorphisms were also detected: nine copies of p.R75Q and one copy each of p.R1162L and c.1584G4A (1716G4A). Login to comment 105 ABCC7 p.Arg75Gln Nonetheless, p.R75 is highly conserved and p.R75Q may be mildly deleterious. Login to comment 106 ABCC7 p.Arg75Gln ABCC7 p.Arg75Gln ABCC7 p.Arg75Gln ABCC7 p.Arg75Gln ABCC7 p.Arg75Gln ABCC7 p.Arg75Gln ABCC7 p.Ser1235Arg ABCC7 p.Ala209Ser If p.R75Q is reclassified as an uncommon mutation causing a variable phenotype, this would change the genotype category for four subjects: one CF carrier would become a compound heterozygote (p.F508del/p.R75Q), two heterozygotes would become compound heterozygotes (p.S1235R/ p.R75Q and p.A209S/p.R75Q), and one normal genotype would become a compound heterozygote or homozygote (p.R75Q/ p.R75Q). Login to comment 109 ABCC7 p.Arg1162Leu Since the other detected variants (p.R1162L and c.1584G4A) occurred only in subjects who had otherwise normal genotypes, the data interpretation does not depend on whether these variants are classified as deleterious or benign. Login to comment