Overview



Nucleotide ID c.1093_1138del
Protein ID p.Q365Rfs*50
Mutation Deletion
Type Type 1-like
Class Class A
Category #NA
COSMIC COSV57119566
Pathologie Myelofibrosis / Essential thrombocythaemia


Structure

# PSIPRED HFORMAT (PSIPRED V4.0)


Conf: 935764148899999999999999999999999999999944999999549999985351


Pred: CHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHCCCCCCCCCHHHHHHHHHH


  AA: AAEKQMKDKQDEERRQRTRRMMRTKMRMRRMRRTRRKMRRKMSPARPRTSCREACLQGWT


              10        20        30        40        50        60


Conf: 39


Pred: CC


  AA: EA

References

PMIDCitation
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
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
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