Overview



Nucleotide ID c.1122_1125del
Protein ID p.K374Nfs*55
Mutation Deletion
Type Type other
Class Class C (C1)
Category #NA
COSMIC COSV57118112
Pathologie Myelodysplastic syndrome / Myelofibrosis / Myeloproliferative neoplasm / Essential thrombocythaemia


Structure

# PSIPRED HFORMAT (PSIPRED V4.0)


Conf: 935766237889999999999999999999999999999999999999999999349999


Pred: CHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHCCCCC


  AA: AAEKQMKDKQDEEQRLKEEEEDNAKRRRRQRTRRMMRTKMRMRRMRRTRRKMRRKMSPAR


              10        20        30        40        50        60


Conf: 9954999998535139


Pred: CCCCHHHHHHHHHHCC


  AA: PRTSCREACLQGWTEA


              70

References

PMIDCitation
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
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
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
24732593Fu R, Xuan M, Zhou Y, et al. Analysis of calreticulin mutations in Chinese patients with essential thrombocythemia: clinical implications in diagnosis, prognosis and treatment. Leukemia. 2014.28(9):1912-1914. doi:10.1038/leu.2014.138
25746303Li N, Yao QM, Gale RP, et al. Frequency and allele burden of CALR mutations in Chinese with essential thrombocythemia and primary myelofibrosis without JAK2(V617F) or MPL mutations. Leuk Res. 2015.39(5):510-514. doi:10.1016/j.leukres.2015.02.006
25398833Shirane S, Araki M, Morishita S, et al. JAK2, CALR, and MPL mutation spectrum in Japanese patients with myeloproliferative neoplasms. Haematologica. 2015.100(2):e46-e48. doi:10.3324/haematol.2014.115113
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