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. 2014 Jun;165(5):734-7.
doi: 10.1111/bjh.12790. Epub 2014 Feb 26.

Screening of JAK2 V617F and MPL W515 K/L negative essential thrombocythaemia patients for mutations in SESN2, DNAJC17, ST13, TOP1MT, and NTRK1

Carla Al Assaf  1 , Els Lierman, Timothy Devos, Johan Billiet, Carlos Graux, Petros Papadopoulos, Peter Vandenberghe
Affiliations
Free PMC article

Screening of JAK2 V617F and MPL W515 K/L negative essential thrombocythaemia patients for mutations in SESN2, DNAJC17, ST13, TOP1MT, and NTRK1

Carla Al Assaf et al. Br J Haematol. 2014 Jun.
Free PMC article
No abstract available

Keywords: JAK2 V617F; TOP1MT; essential thrombocythaemia; in silico; mutations.

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Figures

Figure 1
Figure 1
TOP1MT p.N467S leads to a structural change that might affect the interaction of TOP1MT with DNA. In comparison to wild-type (Wt) TOP1MT, the mutated (Mt) TOP1MT gained an α helix (red arrows) and lost a β strand (blue arrows) in addition to other conformational changes (A). The sites of structural change are in close proximity to the DNA molecule when bound to TOP1MT (B). Alignment of TOP1MT (amino acid 445 to 502) from UNIPROT on Jalview for human, mouse, rat, and chimpanzee shows that asparagine (N, in purple) at position 467 is conserved between these organisms (C). Representation of amino acid changes in TOP1MT as a result of missense mutations, collected from the COSMIC database, indicates that p.N467S is a new variant located in close proximity to other reported mutations from other cancers (D).
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References

    1. Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS. Sunyaev SR. A method and server for predicting damaging missense mutations. Nature Methods. 2010;7:248–249. - PMC - PubMed
    1. Hou Y, Song L, Zhu P, Zhang B, Tao Y, Xu X, Li F, Wu K, Liang J, Shao D, Wu H, Ye X, Ye C, Wu R, Jian M, Chen Y, Xie W, Zhang R, Chen L, Liu X, Yao X, Zheng H, Yu C, Li Q, Gong Z, Mao M, Yang X, Yang L, Li J, Wang W, Lu Z, Gu N, Laurie G, Bolund L, Kristiansen K, Wang J, Yang H, Li Y. Zhang X. Single-cell exome sequencing and monoclonal evolution of a JAK2-negative myeloproliferative neoplasm. Cell. 2012;148:873–885. - PubMed
    1. Kilpivaara O. Levine RL. JAK2 and MPL mutations in myeloproliferative neoplasms: discovery and science. Leukemia. 2008;22:1813–1817. - PubMed
    1. Klampfl T, Gisslinger H, Harutyunyan AS, Nivarthi H, Rumi E, Milosevic JD, Them NC, Berg T, Gisslinger B, Pietra D, Chen D, Vladimer GI, Bagienski K, Milanesi C, Casetti IC, Sant'Antonio E, Ferretti V, Elena C, Schischlik F, Cleary C, Six M, Schalling M, Schonegger A, Bock C, Malcovati L, Pascutto C, Superti-Furga G, Cazzola M. Kralovics R. Somatic mutations of calreticulin in myeloproliferative neoplasms. The New England Journal of Medicine. 2013;369:2379–2390. - PubMed
    1. Kralovics R, Passamonti F, Buser AS, Teo SS, Tiedt R, Passweg JR, Tichelli A, Cazzola M. Skoda RC. A gain-of-function mutation of JAK2 in myeloproliferative disorders. The New England Journal of Medicine. 2005;352:1779–1790. - PubMed

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