Overview



Nucleotide ID c.1111_1150del
Protein ID p.E371Tfs*46
Mutation Deletion
Type Type other
Class Class C (C1)
Category #NA
COSMIC COSV100330633
Pathologie Essential thrombocythaemia


Structure

# PSIPRED HFORMAT (PSIPRED V4.0)


Conf: 935764027789999999999999999999999999999999439999983299999821


Pred: CHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHCCCCCCCCCHHHHHHHH


  AA: AAEKQMKDKQDEEQRLKEETRRMMRTKMRMRRMRRTRRKMRRKMSPARPRTSCREACLQG


              10        20        30        40        50        60


Conf: 3129


Pred: HHCC


  AA: WTEA

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