Overview



Nucleotide ID c.1121_1142del
Protein ID p.K374Rfs*49
Mutation Deletion
Type Type other
Class Class C (C1)
Category #NA
COSMIC COSV100330565
Pathologie Acute leukaemic transformation of myeloproliferative neoplasm / Myeloproliferative neoplasm / Essential thrombocythaemia


Structure

# PSIPRED HFORMAT (PSIPRED V4.0)


Conf: 935764026779999999999999999999999999999999999999439999983299


Pred: CHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHCCCCCCCCCHH


  AA: AAEKQMKDKQDEEQRLKEEEEDRQRTRRMMRTKMRMRRMRRTRRKMRRKMSPARPRTSCR


              10        20        30        40        50        60


Conf: 9998203129


Pred: HHHHHHHHCC


  AA: EACLQGWTEA


              70

References

PMIDCitation
31250082Bonifacio M, Montemezzi R, Parisi A, et al. CAL2 monoclonal antibody is a rapid and sensitive assay for the detection of calreticulin mutations in essential thrombocythemia patients. Ann Hematol. 2019.98(10):2339-2346. doi:10.1007/s00277-019-03741-8