Overview



Nucleotide ID c.1091_1142del
Protein ID p.E364Gfs*49
Mutation Deletion
Type Type 1-like
Class Class A
Category Type 5
COSMIC COSV57116652
Pathologie Myelofibrosis / Essential thrombocythaemia


Structure

# PSIPRED HFORMAT (PSIPRED V4.0)


Conf: 924665332207899999999999999999999999994399999832999998203129


Pred: CHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHCCCCCCCCCHHHHHHHHHHCC


  AA: AAEKQMKDKQDEGQRTRRMMRTKMRMRRMRRTRRKMRRKMSPARPRTSCREACLQGWTEA


              10        20        30        40        50        60

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
25934766Al Assaf C, Van Obbergh F, Billiet J, et al. Analysis of phenotype and outcome in essential thrombocythemia with CALR or JAK2 mutations. Haematologica. 2015.100(7):893-897. doi:10.3324/haematol.2014.118299
24986690Rumi E, Pietra D, Pascutto C, et al. Clinical effect of driver mutations of JAK2, CALR, or MPL in primary myelofibrosis. Blood. 2014.124(7):1062-1069. doi:10.1182/blood-2014-05-578435
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
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
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