ABCC9 p.Val729Phe
| Predicted by SNAP2: | A: D (63%), C: N (53%), D: D (75%), E: D (75%), F: D (71%), G: D (71%), H: D (63%), I: N (87%), K: D (75%), L: D (59%), M: D (63%), N: D (66%), P: D (75%), Q: D (66%), R: D (71%), S: D (63%), T: D (66%), W: D (80%), Y: D (75%), |
| Predicted by PROVEAN: | A: D, C: D, D: D, E: D, F: D, G: D, H: D, I: N, K: D, L: N, M: N, N: D, P: D, Q: D, R: D, S: D, T: D, W: D, Y: D, |
[switch to compact view]
Comments [show]
None has been submitted yet.
[hide] Exome sequencing of serous endometrial tumors iden... Nat Genet. 2012 Dec;44(12):1310-5. doi: 10.1038/ng.2455. Epub 2012 Oct 28. Le Gallo M, O'Hara AJ, Rudd ML, Urick ME, Hansen NF, O'Neil NJ, Price JC, Zhang S, England BM, Godwin AK, Sgroi DC, Hieter P, Mullikin JC, Merino MJ, Bell DW
Exome sequencing of serous endometrial tumors identifies recurrent somatic mutations in chromatin-remodeling and ubiquitin ligase complex genes.
Nat Genet. 2012 Dec;44(12):1310-5. doi: 10.1038/ng.2455. Epub 2012 Oct 28., [PMID:23104009]
Abstract [show]
Endometrial cancer is the sixth most commonly diagnosed cancer in women worldwide, causing ~74,000 deaths annually. Serous endometrial cancers are a clinically aggressive subtype with a poorly defined genetic etiology. We used whole-exome sequencing to comprehensively search for somatic mutations within ~22,000 protein-encoding genes in 13 primary serous endometrial tumors. We subsequently resequenced 18 genes, which were mutated in more than 1 tumor and/or were components of an enriched functional grouping, from 40 additional serous tumors. We identified high frequencies of somatic mutations in CHD4 (17%), EP300 (8%), ARID1A (6%), TSPYL2 (6%), FBXW7 (29%), SPOP (8%), MAP3K4 (6%) and ABCC9 (6%). Overall, 36.5% of serous tumors had a mutated chromatin-remodeling gene, and 35% had a mutated ubiquitin ligase complex gene, implicating frequent mutational disruption of these processes in the molecular pathogenesis of one of the deadliest forms of endometrial cancer.
Comments [show]
None has been submitted yet.
No. Sentence Comment
54 Previous reports of FBXW7 mutations in endometrial cancer Table 1ߒSomatic mutations identified in the discovery and prevalence screens of CHD4, FBXW7, SPOP, MAP3K4, ABCC9 and CYP4X1 (continued) Gene name (RefSeq ID; UCSC transcript accession IDa) Tumor Histology Nucleotide change Amino-acid change Mutation type Mutation Assessor predicted effect on function T43 Serous c.1590_1608delTGAAA CCTGTCTACACACG p.Glu531Cysfs*19 Frameshift - T50 Serous c.1436G>A p.Arg479Gln Missense Mediumb T53 Serous c.1393C>T p.Arg465Cys Missense Mediumb T74 Serous c.1394G>A p.Arg465His Missense Highb T78 Serous c.1394G>A p.Arg465His Missense Highb T79 Serous c.504G>T p.Met168Ile Missense Low T79 Serous c.41G>A p.Arg14Gln Missense Neutral T79 Serous c.1436G>A p.Arg479Gln Missense Mediumb T114 Serous c.1513C>T p.Arg505Cys Missense Mediumb T162 Serous c.1436G>A p.Arg479Gln Missense Mediumb T166 Serous c.1634A>T p.Tyr545Cys Missense Medium T167 Serous c.2065C>T p.Arg689Trp Missense Medium T29 Serous c.1387A>G p.Thr463Ala Missense Medium T80 Serous c.1385C>T p.Ser462Phe Missense Medium T80 Serous c.1322G>C p.Arg441Pro Missense Medium T47 Serous c.1436G>A p.Arg479Gln Missense Mediumb T69 Serous c.2065C>T p.Arg689Trp Missense Medium T32 Clear cell c.1199_1201delACA p.Asn401del In-frame deletion - T77 Clear cell c.1513C>T p.Arg505Cys Missense Mediumb T84 Endometrioid c.1268G>T p.Gly423Val Missense Medium T85 Endometrioid c.1436G>A p.Arg479Gln Missense Mediumb T88 Endometrioid c.994G>T p.Glu332* Nonsense - T88 Endometrioid c.1452G>T p.Arg484Ser Missense High T88 Endometrioid c.1629A>C p.Arg543Ser Missense Low T94 Endometrioid c.1393C>T p.Arg465Cys Missense Mediumb T97 Endometrioid c.1436G>A p.Arg479Gln Missense Mediumb T115 Endometrioid c.1508C>T p.Ala503Val Missense Medium T119 Endometrioid c.1513C>T p.Arg505Cys Missense Mediumb T178 Mixed c.1508C>T p.Ala503Val Missense Medium T179 Mixed c.791A>G p.Gln264Arg Missense Medium T179 Mixed c.1972C>T p.Arg658* Nonsense - SPOP (NM_001007229; uc002ipf.2) T25 Serous c.240C>G p.Ser80Arg Missense Medium T56 Serous c.240C>G p.Ser80Arg Missense Medium T80 Serous c.280C>G p.Pro94Ala Missense Low T154 Serous c.362G>A p.Arg121Gln Missense Low T110 Clear cell c.351G>A p.Met117Ile Missense Low T153 Clear cell c.139G>A p.Glu47Lys Missense Medium MAP3K4 (NM_006724; uc003qtn.2) T79 Serous c.1837G>A p.Glu613Lys Missense Low T79 Serous c.3928G>T p.Glu1310* Nonsense - T80 Serous c.4165G>A p.Glu1389Lys Missense High T65 Serous c.4077delC p.Cys1359Alafs*8 Frameshift - ABCC9 (NM_020297; uc001rfh.2) T3 (OM1323) Serous c.2666G>A p.Ser889Asn Missense Low T3 (OM1323) Serous c.2868G>T p.Glu956Asp Missense Low T70 Serous c.2185G>T p.Val729Phe Missense Medium T75 Serous c.3381G>A p.Met1127Ile Missense Low CYP4X1 (NM_178033; uc001cqr.1) T75 Serous c.1036G>C p.Val346Leu Missense Neutral T56 Serous c.211G>A p.Glu71Lys Missense Neutral -, not evaluated by Mutation Assessor. aUCSC transcript IDs are based on the hg18 assembly of the human genome sequence.
X
ABCC9 p.Val729Phe 23104009:54:2673
status: NEW