Overview



Nucleotide ID c.1102_1137delinsCA
Protein ID p.K368Qfs*51
Mutation Deletion+Insertion
Type Type 1-like
Class Class A
Category Type 16
COSMIC COSV57120754
Pathologie Essential thrombocythaemia


Structure

# PSIPRED HFORMAT (PSIPRED V4.0)


Conf: 935765137679999999999999999999999999999999994499999954999998


Pred: CHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHCCCCCCCCCHHHHHH


  AA: AAEKQMKDKQDEEQRLQRRQRTRRMMRTKMRMRRMRRTRRKMRRKMSPARPRTSCREACL


              10        20        30        40        50        60


Conf: 535139


Pred: HHHHCC


  AA: QGWTEA

References

PMIDCitation
32395211Liu YC, Lee CP, Yeh TJ, et al. Calreticulin Mutation Survey by High Resolution Melting Method Associated with Unique Presentations in Essential Thrombocythemic Patients. Mediterr J Hematol Infect Dis. 2020.12(1):e2020022. Published 2020 May 1. doi:10.4084/MJHID.2020.022
24325356Klampfl T, Gisslinger H, Harutyunyan AS, et al. Somatic mutations of calreticulin in myeloproliferative neoplasms. N Engl J Med. 2013.369(25):2379-2390. doi:10.1056/NEJMoa1311347
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
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