Overview



Nucleotide ID c.1124_1133del
Protein ID p.K375Rfs*52
Mutation Deletion
Type Type other
Class Class C (C1)
Category #NA
COSMIC COSV57129887
Pathologie Myelofibrosis / Essential thrombocythaemia


Structure

# PSIPRED HFORMAT (PSIPRED V4.0)


Conf: 935765016679999999999999999999999999999999999999999943999998


Pred: CHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHCCCCCCC


  AA: AAEKQMKDKQDEEQRLKEEEEDKRRRRQRTRRMMRTKMRMRRMRRTRRKMRRKMSPARPR


              10        20        30        40        50        60


Conf: 32999998202129


Pred: CCHHHHHHHHHHCC


  AA: TSCREACLQGWTEA


              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