Overview



Nucleotide ID c.1118_1145delinsCGTTTA
Protein ID p.D373Afs*50
Mutation Deletion+Insertion
Type Type other
Class Class C (C1)
Category Type 21
COSMIC COSV57128200
Pathologie Essential thrombocythaemia


Structure

# PSIPRED HFORMAT (PSIPRED V4.0)


Conf: 935764026789999999999999999999999999999999999999439999983299


Pred: CHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHCCCCCCCCCHH


  AA: AAEKQMKDKQDEEQRLKEEEEAFKRTRRMMRTKMRMRRMRRTRRKMRRKMSPARPRTSCR


              10        20        30        40        50        60


Conf: 9998203129


Pred: HHHHHHHHCC


  AA: EACLQGWTEA


              70

References

PMIDCitation
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