Overview



Nucleotide ID c.1111_1147del
Protein ID p.E371Rfs*47
Mutation Deletion
Type Type other
Class Class C (C1)
Category #NA
COSMIC COSV57122804
Pathologie Myeloproliferative neoplasm / Essential thrombocythaemia


Structure

# PSIPRED HFORMAT (PSIPRED V4.0)


Conf: 935764026779999999999999999999999999999999943999998329999982


Pred: CHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHCCCCCCCCCHHHHHHH


  AA: AAEKQMKDKQDEEQRLKEERTRRMMRTKMRMRRMRRTRRKMRRKMSPARPRTSCREACLQ


              10        20        30        40        50        60


Conf: 03129


Pred: HHHCC


  AA: GWTEA

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
24325359Nangalia J, Massie CE, Baxter EJ, et al. Somatic CALR mutations in myeloproliferative neoplasms with nonmutated JAK2. N Engl J Med. 2013.369(25):2391-2405. doi:10.1056/NEJMoa1312542
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