Overview



Nucleotide ID c.1154_1155insATGTC
Protein ID p.E386Cfs*46
Mutation Insertion
Type Type 2-like
Class Class B
Category Type 33
COSMIC COSV57118194
Pathologie Myelofibrosis / Essential thrombocythaemia


Structure

# PSIPRED HFORMAT (PSIPRED V4.0)


Conf: 935765027789999999999999999999999999999999999999999999999439


Pred: CHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHCC


  AA: AAEKQMKDKQDEEQRLKEEEEDKKRKEEEEAEDKCRRMMRTKMRMRRMRRTRRKMRRKMS


              10        20        30        40        50        60


Conf: 9999832999998202129


Pred: CCCCCCCHHHHHHHHHHCC


  AA: PARPRTSCREACLQGWTEA


              70

References

PMIDCitation
29703677Luque Paz D, Boyer F, Beucher A, et al. Concomitant CALR and LNK mutations leading to essential thrombocythemia with erythrocytosis. Blood Cells Mol Dis. 2018.71:75-76. doi:10.1016/j.bcmd.2018.04.002
24504025Panagiota V, Thol F, Markus B, et al. Prognostic effect of calreticulin mutations in patients with myelofibrosis after allogeneic hematopoietic stem cell transplantation. Leukemia. 2014.28(7):1552-1555. doi:10.1038/leu.2014.66
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
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
25398833Shirane S, Araki M, Morishita S, et al. JAK2, CALR, and MPL mutation spectrum in Japanese patients with myeloproliferative neoplasms. Haematologica. 2015.100(2):e46-e48. doi:10.3324/haematol.2014.115113
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