Overview



Nucleotide ID c.1116_1146del
Protein ID p.D373Rfs*47
Mutation Deletion
Type Type other
Class Class C (C1)
Category Type 54
COSMIC COSV57122884
Pathologie Myelofibrosis / Essential thrombocythaemia


Structure

# PSIPRED HFORMAT (PSIPRED V4.0)


Conf: 935764016679999999999999999999999999999999999439999983299999


Pred: CHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHCCCCCCCCCHHHHH


  AA: AAEKQMKDKQDEEQRLKEEEERTRRMMRTKMRMRRMRRTRRKMRRKMSPARPRTSCREAC


              10        20        30        40        50        60


Conf: 8203129


Pred: HHHHHCC


  AA: LQGWTEA

References

PMIDCitation
25729726Park SH, Kim SY, Lee SM, et al. Incidence, clinical features, and prognostic impact of CALR exon 9 mutations in essential thrombocythemia and primary myelofibrosis: an experience of a single tertiary hospital in Korea. Ann Lab Med. 2015.35(2):233-237. doi:10.3343/alm.2015.35.2.233
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
29306106Gángó A, Mózes R, Boha Z, et al. Quantitative assessment of JAK2 V617F and CALR mutations in Philadelphia negative myeloproliferative neoplasms. Leuk Res. 2018.65:42-48. doi:10.1016/j.leukres.2017.12.005
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
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
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
26375990Guo H, Chen X, Tian R, et al. Frequencies, Laboratory Features, and Granulocyte Activation in Chinese Patients with CALR-Mutated Myeloproliferative Neoplasms [published correction appears in PLoS One. 2015.10(10):e0141173]. PLoS One. 2015.10(9):e0138250. Published 2015 Sep 16. doi:10.1371/journal.pone.0138250