Overview




Nucleotide ID c.1143_1154delinsTCCTTGTC
Protein ID p.E381Dfs*48
Mutation Deletion+Insertion
Type Type 2-like
Class Class B
Category #NA
COSMIC COSV57119915
Pathologie Essential thrombocythaemia


Structure


# PSIPRED HFORMAT (PSIPRED V4.0)
Conf: 935765027789999999999999998316999999999999999999999999439999
Pred: CHHHHHHHHHHHHHHHHHHHHHHHHHHHHCHHHHHHHHHHHHHHHHHHHHHHHHHCCCCC
  AA: AAEKQMKDKQDEEQRLKEEEEDKKRKEEEDPCRRMMRTKMRMRRMRRTRRKMRRKMSPAR
              10        20        30        40        50        60
Conf: 9832999998202139
Pred: CCCCHHHHHHHHHHCC
  AA: PRTSCREACLQGWTEA
              70  

References


PMIDCitation
24325359Nangalia J, Massie CE, Baxter EJ, et al. Somatic CALR mutations in myeloproliferative neoplasms with nonmutated JAK2. N Engl J Med. 2013.369(25):2391-2405. doi:10.1056/NEJMoa1312542
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