Overview



Nucleotide ID c.1097_1130del
Protein ID p.R366Kfs*53
Mutation Deletion
Type Type 1-like
Class Class A
Category #NA
COSMIC COSV57137912
Pathologie Essential thrombocythaemia


Structure

# PSIPRED HFORMAT (PSIPRED V4.0)


Conf: 935765236559999999999999999999999999999999994499999954999998


Pred: CHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHCCCCCCCCCHHHHHH


  AA: AAEKQMKDKQDEEQKRRRRQRTRRMMRTKMRMRRMRRTRRKMRRKMSPARPRTSCREACL


              10        20        30        40        50        60


Conf: 535139


Pred: HHHHCC


  AA: QGWTEA

References

PMIDCitation
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
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
29424450Lasho TL, Finke CM, Tischer A, Pardanani A, Tefferi A. Mayo CALR mutation type classification guide using alpha helix propensity. Am J Hematol. 2018.93(5):E128-E129. doi:10.1002/ajh.25065