Overview




Nucleotide ID c.1100_1145del
Protein ID p.L367Qfs*48
Mutation Deletion
Type Type 1-like
Class Class A
Category #NA
COSMIC COSV57117063
Pathologie Myelofibrosis / Myeloproliferative neoplasm / Essential thrombocythaemia


Structure


# PSIPRED HFORMAT (PSIPRED V4.0)
Conf: 935764026349999999999999999999999999999943999998329999982131
Pred: CHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHCCCCCCCCCHHHHHHHHHH
  AA: AAEKQMKDKQDEEQRQRTRRMMRTKMRMRRMRRTRRKMRRKMSPARPRTSCREACLQGWT
              10        20        30        40        50        60
Conf: 29
Pred: CC
  AA: EA

References


PMIDCitation
25801912Palandri F, Latagliata R, Polverelli N, et al. Mutations and long-term outcome of 217 young patients with essential thrombocythemia or early primary myelofibrosis. Leukemia. 2015.29(6):1344-1349. doi:10.1038/leu.2015.87
25746303Li N, Yao QM, Gale RP, et al. Frequency and allele burden of CALR mutations in Chinese with essential thrombocythemia and primary myelofibrosis without JAK2(V617F) or MPL mutations. Leuk Res. 2015.39(5):510-514. doi:10.1016/j.leukres.2015.02.006
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
27855276Usseglio F, Beaufils N, Calleja A, Raynaud S, Gabert J. Detection of CALR and MPL Mutations in Low Allelic Burden JAK2 V617F Essential Thrombocythemia. J Mol Diagn. 2017.19(1):92-98. doi:10.1016/j.jmoldx.2016.08.006
26343915Riera L, Osella-Abate S, Benevolo G, et al. Novel CALR somatic mutations in essential thrombocythaemia. Br J Haematol. 2016.173(5):797-801. doi:10.1111/bjh.13638
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
25323779Wojtaszewska M, Iwoła M, Lewandowski K. Frequency and molecular characteristics of calreticulin gene (CALR) mutations in patients with JAK2 -negative myeloproliferative neoplasms. Acta Haematol. 2015.133(2):193-198. doi:10.1159/000366263
25015052Chen CC, Gau JP, Chou HJ, et al. Frequencies, clinical characteristics, and outcome of somatic CALR mutations in JAK2-unmutated essential thrombocythemia. Ann Hematol. 2014.93(12):2029-2036. doi:10.1007/s00277-014-2151-8
24732593Fu R, Xuan M, Zhou Y, et al. Analysis of calreticulin mutations in Chinese patients with essential thrombocythemia: clinical implications in diagnosis, prognosis and treatment. Leukemia. 2014.28(9):1912-1914. doi:10.1038/leu.2014.138
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
24325359Nangalia J, Massie CE, Baxter EJ, et al. Somatic CALR mutations in myeloproliferative neoplasms with nonmutated JAK2. N Engl J Med. 2013.369(25):2391-2405. doi:10.1056/NEJMoa1312542
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