Overview



Nucleotide ID c.1120_1138del
Protein ID p.K374Rfs*50
Mutation Deletion
Type Type other
Class Class C (C1)
Category Type 24
COSMIC #NA
Pathologie Essential thrombocythaemia


Structure

# PSIPRED HFORMAT (PSIPRED V4.0)


Conf: 936776237789999999999999999999999999999999999999944999999439


Pred: CHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHCCCCCCCCCH


  AA: AAEKQMKDKQDEEQRLKEEEEDRRQRTRRMMRTKMRMRRMRRTRRKMRRKMSPARPRTSC


              10        20        30        40        50        60


Conf: 99998202139


Pred: HHHHHHHHHCC


  AA: REACLQGWTEA


              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
29306106Gángó A, Mózes R, Boha Z, et al. Quantitative assessment of JAK2 V617F and CALR mutations in Philadelphia negative myeloproliferative neoplasms. Leuk Res. 2018.65:42-48. doi:10.1016/j.leukres.2017.12.005
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