ABCC7 p.Ala309Ser
| ClinVar: |
c.926C>G
,
p.Ala309Gly
?
, not provided
|
| CF databases: |
c.925G>A
,
p.Ala309Thr
(CFTR1)
?
,
c.926C>A , p.Ala309Asp (CFTR1) ? , The mutation is the C1058A substitution in exon 7, changing alanine 309 to aspartic acid. This mutation has been detected in the maternal CF chromosome of a PS patient originating from Southern Italy (Sicily) and carrying the [delta]F508 mutation on the other chromosome. c.926C>G , p.Ala309Gly (CFTR1) ? , The above mutation was detected by DGGE using chemical clamps and identified by direct sequencing. It is not found in 100 other non-[delta]F508 CF chromosomes and 100 non-CF chromosomes tested. The patient is from Reunion Island. c.926C>T , p.Ala309Val (CFTR1) ? , |
| Predicted by SNAP2: | C: D (59%), D: D (75%), E: D (75%), F: D (75%), G: D (53%), H: D (85%), I: D (80%), K: D (80%), L: D (71%), M: D (80%), N: D (63%), P: D (75%), Q: D (66%), R: D (75%), S: N (82%), T: N (66%), V: D (63%), W: D (91%), Y: D (91%), |
| Predicted by PROVEAN: | C: N, D: N, E: N, F: N, G: N, H: N, I: N, K: N, L: N, M: N, N: N, P: N, Q: N, R: N, S: N, T: N, V: N, W: N, Y: N, |
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[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.
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No. Sentence Comment
76 We identified five point mutations involving the CFTR gene in four samples; these included four missense (LUC18: M82V, LUC9: R170L, F354I, and A309S from panel screening) and one nonsense (LUC18: S478*) mutations.
X
ABCC7 p.Ala309Ser 22980976:76:143
status: NEW