ABCMdb

PMID: 20571109

Spadafora D, Hawkins EC, Murphy KE, Clark LA, Ballard ST
Naturally occurring mutations in the canine CFTR gene.
Physiol Genomics. 2010 Aug;42(3):480-5. Epub 2010 Jun 22., [PubMed]

Sentences

No. Mutations Sentence Comment

12 ABCC7 p.Arg1453Trp R1456W is analogous to the human R1453W mutation, which has ϳ20% of normal CFTR function and is associated with pancreatitis and panbronchiolitis. Login to comment 13 ABCC7 p.Arg1453Trp R1456W is analogous to the human R1453W mutation, which has ϳ20% of normal CFTR function and is associated with pancreatitis and panbronchiolitis. Login to comment 98 ABCC7 p.Arg1453Trp P1281T was present in exon 23, and two mutations, R1453W and P1464H, were present in exon 27. Login to comment 99 ABCC7 p.Arg1453Trp P1281T was present in exon 23, and two mutations, R1453W and P1464H, were present in exon 27. Login to comment 126 ABCC7 p.Arg1453Trp One of the canine mutations that was discovered, R1456W, has a human analog, R1453W, that is associated with disease. Login to comment 127 ABCC7 p.Arg1453Trp One of the canine mutations that was discovered, R1456W, has a human analog, R1453W, that is associated with disease. Login to comment 129 ABCC7 p.Arg1453Trp One human patient that was homozygous for the R1453W mutation was diagnosed with pancreatitis (8). Login to comment 130 ABCC7 p.Arg1453Trp ABCC7 p.Arg1453Trp One human patient that was homozygous for the R1453W mutation was diagnosed with pancreatitis (8). Login to comment 131 ABCC7 p.Arg1453Trp Another patient, who was compound heterozygous for the R1453W and 5T splice variant of the polyT region of CFTR, was diagnosed with panbronchiolitis (7). Login to comment 132 ABCC7 p.Arg1453Trp The human R1453W CFTR mutant has a normal unitary conductance, but the open probability (Po) of the channel is only ϳ20% of normal (12). Login to comment 133 ABCC7 p.Arg1453Trp The human R1453W CFTR mutant has a normal unitary conductance, but the open probability (Po) of the channel is only ϳ20% of normal (12). Login to comment 147 ABCC7 p.Asp110Glu ABCC7 p.Ser813Pro ABCC7 p.Arg810Gly Nonetheless, a human patient who expressed the S813P mutation with the D110E mutation was reported to have mild CF and the R810G mutation and severe loss of function mutation F508del were present in a patient with CBAVD (7). Login to comment 148 ABCC7 p.Asp110Glu ABCC7 p.Ser813Pro ABCC7 p.Arg810Gly Nonetheless, a human patient who expressed the S813P mutation with the D110E mutation was reported to have mild CF and the R810G mutation and severe loss of function mutation F508del were present in a patient with CBAVD (7). Login to comment