Overview



Nucleotide ID c.1125_1146del
Protein ID p.K377Tfs*46
Mutation Deletion
Type Type other
Class Class C (C1)
Category #NA
COSMIC COSV57121734
Pathologie Essential thrombocythaemia


Structure

# PSIPRED HFORMAT (PSIPRED V4.0)


Conf: 935765027779999999999999999999999999999999999999439999983299


Pred: CHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHCCCCCCCCCHH


  AA: AAEKQMKDKQDEEQRLKEEEEDKKRTRRMMRTKMRMRRMRRTRRKMRRKMSPARPRTSCR


              10        20        30        40        50        60


Conf: 9998203129


Pred: HHHHHHHHCC


  AA: EACLQGWTEA


              70

References

PMIDCitation
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
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
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
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