ABCB5 p.Glu347Arg
| Predicted by SNAP2: | A: D (63%), C: D (66%), D: D (53%), F: D (80%), G: D (71%), H: D (75%), I: D (80%), K: D (80%), L: D (80%), M: D (66%), N: D (71%), P: D (85%), Q: N (61%), R: D (80%), S: D (71%), T: D (71%), V: D (75%), W: D (85%), Y: D (80%), |
| Predicted by PROVEAN: | A: D, C: D, D: N, F: D, G: D, H: D, I: D, K: D, L: D, M: D, N: D, P: D, Q: N, R: D, S: D, T: D, V: D, W: D, Y: D, |
[switch to compact view]
Comments [show]
None has been submitted yet.
[hide] Genomic landscape of non-small cell lung cancer in... Cell. 2012 Sep 14;150(6):1121-34. doi: 10.1016/j.cell.2012.08.024. Govindan R, Ding L, Griffith M, Subramanian J, Dees ND, Kanchi KL, Maher CA, Fulton R, Fulton L, Wallis J, Chen K, Walker J, McDonald S, Bose R, Ornitz D, Xiong D, You M, Dooling DJ, Watson M, Mardis ER, Wilson RK
Genomic landscape of non-small cell lung cancer in smokers and never-smokers.
Cell. 2012 Sep 14;150(6):1121-34. doi: 10.1016/j.cell.2012.08.024., [PMID:22980976]
Abstract [show]
We report the results of whole-genome and transcriptome sequencing of tumor and adjacent normal tissue samples from 17 patients with non-small cell lung carcinoma (NSCLC). We identified 3,726 point mutations and more than 90 indels in the coding sequence, with an average mutation frequency more than 10-fold higher in smokers than in never-smokers. Novel alterations in genes involved in chromatin modification and DNA repair pathways were identified, along with DACH1, CFTR, RELN, ABCB5, and HGF. Deep digital sequencing revealed diverse clonality patterns in both never-smokers and smokers. All validated EFGR and KRAS mutations were present in the founder clones, suggesting possible roles in cancer initiation. Analysis revealed 14 fusions, including ROS1 and ALK, as well as novel metabolic enzymes. Cell-cycle and JAK-STAT pathways are significantly altered in lung cancer, along with perturbations in 54 genes that are potentially targetable with currently available drugs.
Comments [show]
None has been submitted yet.
No. Sentence Comment
72 We also discovered three samples with nonsynonymous point mutations (LUC11: G347R, LUC12: M521L, and LUC9: P580S and A687S) in the ABCB5 gene, which encodes a membrane transporter protein belonging to the ATP-binding cassette (ABC) protein family.
X
ABCB5 p.Glu347Arg 22980976:72:76
status: NEW