Overview




Nucleotide ID c.1154_1155insTTGTC
Protein ID p.K385Nfs*47
Mutation Insertion
Type Type 2-like
Class Class B
Category Type 2
COSMIC COSV57116551
Pathologie Chronic neutrophilic leukaemia / Primary myelofibrosis / Myelofibrosis / Essential thrombocythaemia / Myelodysplastic-myeloproliferative neoplasm / Acute myeloid leukaemia associated with MDS / Acute leukaemic transformation of primary myelofibrosis / Myeloproliferative neoplasm / Chronic myelomonocytic leukaemia / Acute leukaemic transformation of myeloproliferative neoplasm / Acute leukaemic transformation of essential thrombocythaemia / Myeloproliferative neoplasm unclassifiable / Chronic myeloid leukaemia / Myelodysplastic syndrome


Structure


# PSIPRED HFORMAT (PSIPRED V4.0)
Conf: 935765027789999999999999999999999999999999999999999999999439
Pred: CHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHCC
  AA: AAEKQMKDKQDEEQRLKEEEEDKKRKEEEEAEDNCRRMMRTKMRMRRMRRTRRKMRRKMS
              10        20        30        40        50        60
Conf: 9999832999998202129
Pred: CCCCCCCHHHHHHHHHHCC
  AA: PARPRTSCREACLQGWTEA
              70     

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
25573593Pósfai É, Marton I, Király PA, et al. JAK2 V617F, MPL, and CALR mutations in essential thrombocythaemia and major thrombotic complications: a single-institute retrospective analysis. Pathol Oncol Res. 2015.21(3):751-758. doi:10.1007/s12253-014-9885-4
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
25173966Turon F, Cervantes F, Colomer D, Baiges A, Hernández-Gea V, Garcia-Pagán JC. Role of calreticulin mutations in the aetiological diagnosis of splanchnic vein thrombosis. J Hepatol. 2015.62(1):72-74. doi:10.1016/j.jhep.2014.08.032
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
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
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
25838280Bonzheim I, Mankel B, Klapthor P, et al. CALR-mutated essential thrombocythemia evolving to chronic myeloid leukemia with coexistent CALR mutation and BCR-ABL translocation. Blood. 2015.125(14):2309-2311. doi:10.1182/blood-2014-12-616847
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
27352261Haslam K, Conneally E, Flynn CM, et al. CALR mutation profile in Irish patients with myeloproliferative neoplasms. Hematol Oncol Stem Cell Ther. 2016.9(3):112-115. doi:10.1016/j.hemonc.2016.05.002
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
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
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
29148089Venton G, Courtier F, Charbonnier A, et al. Impact of gene mutations on treatment response and prognosis of acute myeloid leukemia secondary to myeloproliferative neoplasms. Am J Hematol. 2018.93(3):330-338. doi:10.1002/ajh.24973
25661444Mondet J, Park JH, Menard A, et al. Endogenous megakaryocytic colonies underline association between megakaryocytes and calreticulin mutations in essential thrombocythemia. Haematologica. 2015.100(5):e176-e178. doi:10.3324/haematol.2014.118927