Overview




Nucleotide ID c.1131_1152del
Protein ID p.E378Rfs*45
Mutation Deletion
Type Type other
Class Class C (C2)
Category Type 28
COSMIC #NA
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
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