Overview



Nucleotide ID c.1092_1125del
Protein ID p.E364Dfs*55
Mutation Deletion
Type Type 1-like
Class Class A
Category #NA
COSMIC COSV57122102
Pathologie Essential thrombocythaemia


Structure

# PSIPRED HFORMAT (PSIPRED V4.0)


Conf: 935765245129999999999999999999999999999999994499999954999998


Pred: CHHHHHHHHCCHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHCCCCCCCCCHHHHHH


  AA: AAEKQMKDKQDEDAKRRRRQRTRRMMRTKMRMRRMRRTRRKMRRKMSPARPRTSCREACL


              10        20        30        40        50        60


Conf: 535139


Pred: HHHHCC


  AA: QGWTEA

References

PMIDCitation
27504244Kondo T, Tasaka T, Tomioka N, et al. Low neutrophil alkaline phosphatase score is a new aspect of calreticulin-mutated myeloproliferative neoplasms. Springerplus. 2016.5(1):1146. Published 2016 Jul 22. doi:10.1186/s40064-016-2829-6
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
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