ABCB1 p.Ser696Pro
| Predicted by SNAP2: | A: D (53%), C: D (53%), D: D (53%), E: D (59%), F: D (66%), G: N (61%), H: N (57%), I: D (63%), K: D (53%), L: D (63%), M: D (53%), N: N (72%), P: N (66%), Q: D (53%), R: D (63%), T: N (66%), V: D (63%), W: D (75%), Y: D (66%), |
| Predicted by PROVEAN: | A: N, C: D, D: D, E: D, F: D, G: D, H: D, I: D, K: D, L: D, M: D, N: N, P: D, Q: D, R: D, T: N, V: D, W: D, Y: D, |
[switch to compact view]
Comments [show]
None has been submitted yet.
[hide] Novel insertion mutation of ABCB1 gene in an iverm... J Vet Sci. 2010 Dec;11(4):341-4. Han JI, Son HW, Park SC, Na KJ
Novel insertion mutation of ABCB1 gene in an ivermectin-sensitive Border Collie.
J Vet Sci. 2010 Dec;11(4):341-4., [PMID:21113104]
Abstract [show]
P-glycoprotein (P-gp) is encoded by the ABCB1 gene and acts as an efflux pump for xenobiotics. In the Border Collie, a nonsense mutation caused by a 4-base pair deletion in the ABCB1 gene is associated with a premature stop to P-gp synthesis. In this study, we examined the full-length coding sequence of the ABCB1 gene in an ivermectin-sensitive Border Collie that lacked the aforementioned deletion mutation. The sequence was compared to the corresponding sequences of a wild-type Beagle and seven ivermectin-tolerant family members of the Border Collie. When compared to the wild-type Beagle sequence, that of the ivermectin-sensitive Border Collie was found to have one insertion mutation and eight single nucleotide polymorphisms (SNPs) in the coding sequence of the ABCB1 gene. While the eight SNPs were also found in the family members' sequences, the insertion mutation was found only in the ivermectin-sensitive dog. These results suggest the possibility that the SNPs are species-specific features of the ABCB1 gene in Border Collies, and that the insertion mutation may be related to ivermectin intolerance.
Comments [show]
None has been submitted yet.
No. Sentence Comment
43 Six of the SNPs lead to amino acid exchanges (Val192Ile, Pro212Arg, Thr329Ser, Arg532Gln, Ser696Pro, and Ile273Val), while G996A and T2082A resulted in silent mutations.
X
ABCB1 p.Ser696Pro 21113104:43:90
status: NEW