Overview



Nucleotide ID c.1114_1144del
Protein ID p.E372Qfs*48
Mutation Deletion
Type Type other
Class Class C (C1)
Category Type 57
COSMIC COSV57118722
Pathologie Essential thrombocythaemia


Structure

# PSIPRED HFORMAT (PSIPRED V4.0)


Conf: 935765016779999999999999999999999999999999999439999983299999


Pred: CHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHCCCCCCCCCHHHHH


  AA: AAEKQMKDKQDEEQRLKEEEQRTRRMMRTKMRMRRMRRTRRKMRRKMSPARPRTSCREAC


              10        20        30        40        50        60


Conf: 8203129


Pred: HHHHHCC


  AA: LQGWTEA

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
32395211Liu YC, Lee CP, Yeh TJ, et al. Calreticulin Mutation Survey by High Resolution Melting Method Associated with Unique Presentations in Essential Thrombocythemic Patients. Mediterr J Hematol Infect Dis. 2020.12(1):e2020022. Published 2020 May 1. doi:10.4084/MJHID.2020.022
24791854Tefferi A, Wassie EA, Lasho TL, et al. Calreticulin mutations and long-term survival in essential thrombocythemia. Leukemia. 2014.28(12):2300-2303. doi:10.1038/leu.2014.148
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