Overview



Nucleotide ID c.1153_1154delinsTGTC
Protein ID p.K385Cfs*46
Mutation Deletion+Insertion
Type Type 2-like
Class Class B
Category Type 32
COSMIC COSV57124473
Pathologie Myelofibrosis / Essential thrombocythaemia


Structure

# PSIPRED HFORMAT (PSIPRED V4.0)


Conf: 935765027789999999999999999999999999999999999999999999994399


Pred: CHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHCCC


  AA: AAEKQMKDKQDEEQRLKEEEEDKKRKEEEEAEDCRRMMRTKMRMRRMRRTRRKMRRKMSP


              10        20        30        40        50        60


Conf: 999832999998202129


Pred: CCCCCCHHHHHHHHHHCC


  AA: ARPRTSCREACLQGWTEA


              70

References

PMIDCitation
31250082Bonifacio M, Montemezzi R, Parisi A, et al. CAL2 monoclonal antibody is a rapid and sensitive assay for the detection of calreticulin mutations in essential thrombocythemia patients. Ann Hematol. 2019.98(10):2339-2346. doi:10.1007/s00277-019-03741-8
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
26227853Nunes DP, Lima LT, Chauffaille Mde L, et al. CALR mutations screening in wild type JAK2(V617F) and MPL(W515K/L) Brazilian myeloproliferative neoplasm patients. Blood Cells Mol Dis. 2015.55(3):236-240. doi:10.1016/j.bcmd.2015.07.005
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
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