Overview



Nucleotide ID c.1124_1142del
Protein ID p.K375Rfs*49
Mutation Deletion
Type Type other
Class Class C (C1)
Category #NA
COSMIC COSV57118929
Pathologie Essential thrombocythaemia


Structure

# PSIPRED HFORMAT (PSIPRED V4.0)


Conf: 935765026789999999999999999999999999999999999999943999998329


Pred: CHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHCCCCCCCCCH


  AA: AAEKQMKDKQDEEQRLKEEEEDKRQRTRRMMRTKMRMRRMRRTRRKMRRKMSPARPRTSC


              10        20        30        40        50        60


Conf: 99998203129


Pred: HHHHHHHHHCC


  AA: REACLQGWTEA


              70

References

PMIDCitation
32395211Liu YC, Lee CP, Yeh TJ, et al. Calreticulin Mutation Survey by High Resolution Melting Method Associated with Unique Presentations in Essential Thrombocythemic Patients. Mediterr J Hematol Infect Dis. 2020.12(1):e2020022. Published 2020 May 1. doi:10.4084/MJHID.2020.022
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
26227853Nunes DP, Lima LT, Chauffaille Mde L, et al. CALR mutations screening in wild type JAK2(V617F) and MPL(W515K/L) Brazilian myeloproliferative neoplasm patients. Blood Cells Mol Dis. 2015.55(3):236-240. doi:10.1016/j.bcmd.2015.07.005
31554376Vu HA, Thao TT, Dong CV, et al. Clinical and Hematological Relevance of JAK2V617F, CALR, and MPL Mutations in Vietnamese Patients with Essential Thrombocythemia. Asian Pac J Cancer Prev. 2019.20(9):2775-2780. Published 2019 Sep 1. doi:10.31557/APJCP.2019.20.9.2775
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
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