Overview



Nucleotide ID c.1094_1139del
Protein ID p.Q365Rfs*50
Mutation Deletion
Type Type 1-like
Class Class A
Category Type 6
COSMIC COSV57120295
Pathologie Essential thrombocythaemia


Structure

# PSIPRED HFORMAT (PSIPRED V4.0)


Conf: 935764148899999999999999999999999999999944999999549999985351


Pred: CHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHCCCCCCCCCHHHHHHHHHH


  AA: AAEKQMKDKQDEERRQRTRRMMRTKMRMRRMRRTRRKMRRKMSPARPRTSCREACLQGWT


              10        20        30        40        50        60


Conf: 39


Pred: CC


  AA: EA

References

PMIDCitation
24935260McGaffin G, Harper K, Stirling D, McLintock L. JAK2 V617F and CALR mutations are not mutually exclusive. findings from retrospective analysis of a small patient cohort. Br J Haematol. 2014.167(2):276-278. doi:10.1111/bjh.12969
26375990Guo H, Chen X, Tian R, et al. Frequencies, Laboratory Features, and Granulocyte Activation in Chinese Patients with CALR-Mutated Myeloproliferative Neoplasms [published correction appears in PLoS One. 2015.10(10):e0141173]. PLoS One. 2015.10(9):e0138250. Published 2015 Sep 16. doi:10.1371/journal.pone.0138250
24791854Tefferi A, Wassie EA, Lasho TL, et al. Calreticulin mutations and long-term survival in essential thrombocythemia. Leukemia. 2014.28(12):2300-2303. doi:10.1038/leu.2014.148
24366362Rumi E, Pietra D, Ferretti V, et al. JAK2 or CALR mutation status defines subtypes of essential thrombocythemia with substantially different clinical course and outcomes. Blood. 2014.123(10):1544-1551. doi:10.1182/blood-2013-11-539098
24325356Klampfl T, Gisslinger H, Harutyunyan AS, et al. Somatic mutations of calreticulin in myeloproliferative neoplasms. N Engl J Med. 2013.369(25):2379-2390. doi:10.1056/NEJMoa1311347
29424450Lasho TL, Finke CM, Tischer A, Pardanani A, Tefferi A. Mayo CALR mutation type classification guide using alpha helix propensity. Am J Hematol. 2018.93(5):E128-E129. doi:10.1002/ajh.25065