Overview




Nucleotide ID c.1099_1150del
Protein ID p.L367Tfs*46
Mutation Deletion
Type Type 1-like
Class Class A
Category Type 1
COSMIC COSV57116546
Pathologie Primary myelofibrosis / Myelofibrosis / Essential thrombocythaemia / Acute myeloid leukaemia associated with MDS / Polycythaemia vera / Myeloproliferative neoplasm / Acute leukaemic transformation of myeloproliferative neoplasm / Myeloproliferative neoplasm unclassifiable / Chronic myeloid leukaemia / Acute myeloid leukaemia / Myelodysplastic syndrome


Structure


# PSIPRED HFORMAT (PSIPRED V4.0)
Conf: 925765036509999999999999999999999999994399999832999998213129
Pred: CHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHCCCCCCCCCHHHHHHHHHHCC
  AA: AAEKQMKDKQDEEQRTRRMMRTKMRMRRMRRTRRKMRRKMSPARPRTSCREACLQGWTEA
              10        20        30        40        50        60

References


PMIDCitation
31776465Bartels S, Faisal M, Büsche G, et al. Mutations associated with age-related clonal hematopoiesis in PMF patients with rapid progression to myelofibrosis. Leukemia. 2020.34(5):1364-1372. doi:10.1038/s41375-019-0668-5
26994960Monte-Mor Bda C, Ayres-Silva Jde P, Correia WD, et al. Clinical features of JAK2V617F- or CALR-mutated essential thrombocythemia and primary myelofibrosis. Blood Cells Mol Dis. 2016.60:74-77. doi:10.1016/j.bcmd.2016.03.003
26377485Wang J, Hao J, He N, Ji C, Ma D. The Mutation Profile of Calreticulin in Patients with Myeloproliferative Neoplasms and Acute Leukemia. Miyeloproliferatif Neoplazisi ve Akut Lösemisi Olan Hastalarda Kalretikülin Mutasyon Profili. Turk J Haematol. 2016.33(3):180-186. doi:10.4274/tjh.2015.0220
24402162Tefferi A, Lasho TL, Finke CM, et al. CALR vs JAK2 vs MPL-mutated or triple-negative myelofibrosis: clinical, cytogenetic and molecular comparisons. Leukemia. 2014.28(7):1472-1477. doi:10.1038/leu.2014.3
25190754Salama ME, Swierczek SI, Tashi T, Warby CA, Reading NS, Prchal JT. Calreticulin mutated prefibrotic-stage myelofibrosis and PMF represent an independent clone from coexisting CLL. Blood. 2014.124(10):1691-1692. doi:10.1182/blood-2014-04-568410
32971364Javorniczky NR, Wehrle J, Ihorst G, et al. Prevalence and characteristics of myeloproliferative neoplasms with concomitant monoclonal gammopathy. Leuk Res. 2020.98:106454. doi:10.1016/j.leukres.2020.106454
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
25682604Plompen EP, Valk PJ, Chu I, et al. Somatic calreticulin mutations in patients with Budd-Chiari syndrome and portal vein thrombosis. Haematologica. 2015.100(6):e226-e228. doi:10.3324/haematol.2014.120857
27521277Panovska-Stavridis I, Eftimov A, Ivanovski M, et al. Diversities of Calreticulin Gene Mutations in Macedonian Patients With Essential Thrombocythemia. Clin Lymphoma Myeloma Leuk. 2016.16(8):477-481. doi:10.1016/j.clml.2016.04.019
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
25637689Labastida-Mercado N, Galindo-Becerra S, Garcés-Eisele J, et al. The mutation profile of JAK2, MPL and CALR in Mexican patients with Philadelphia chromosome-negative myeloproliferative neoplasms. Hematol Oncol Stem Cell Ther. 2015.8(1):16-21. doi:10.1016/j.hemonc.2014.12.002
24837467Lippert E, Mansier O, Migeon M, et al. Clinical and biological characterization of patients with low (0.1-2%) JAK2V617F allele burden at diagnosis. Haematologica. 2014.99(7):e98-e101. doi:10.3324/haematol.2014.107656
25103987Trifa AP, Popp RA, Cucuianu A, et al. CALR versus JAK2 mutated essential thrombocythaemia - a report on 141 patients. Br J Haematol. 2015.168(1):151-153. doi:10.1111/bjh.13076
27917774De Kock A, Booysen C. Screening for calreticulin mutations in a cohort of patients suspected of having a myeloproliferative neoplasm. S Afr Med J. 2016.106(12):1260-1262. Published 2016 Dec 1. doi:10.7196/SAMJ.2016.v106.i12.10769
27535857Xu ZF, Li B, Liu JQ, et al. Zhonghua Xue Ye Xue Za Zhi. 2016.37(7):576-580. doi:10.3760/cma.j.issn.0253-2727.2016.07.007
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