Overview



Nucleotide ID c.1132_1153del
Protein ID p.E378Rfs*45
Mutation Deletion
Type Type other
Class Class C (C2)
Category #NA
COSMIC COSV57131368
Pathologie Essential thrombocythaemia


Structure

# PSIPRED HFORMAT (PSIPRED V4.0)


Conf: 936776238889999999999999999999999999999999999999449999994399


Pred: CHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHCCCCCCCCCHH


  AA: AAEKQMKDKQDEEQRLKEEEEDKKRKRRMMRTKMRMRRMRRTRRKMRRKMSPARPRTSCR


              10        20        30        40        50        60


Conf: 9998202139


Pred: HHHHHHHHCC


  AA: EACLQGWTEA


              70

References

PMIDCitation
31882869Belcic Mikic T, Pajic T, Sever M. CALR mutations in a cohort of JAK2 V617F negative patients with suspected myeloproliferative neoplasms. Sci Rep. 2019.9(1):19838. Published 2019 Dec 27. doi:10.1038/s41598-019-56236-x
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
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