Overview



Nucleotide ID c.1110_1140del
Protein ID p.E371Rfs*49
Mutation Deletion
Type Type other
Class Class C (C1)
Category Type 19
COSMIC #NA
Pathologie Essential thrombocythaemia


Structure

# PSIPRED HFORMAT (PSIPRED V4.0)


Conf: 935765026779999999999999999999999999999999999439999983299999


Pred: CHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHCCCCCCCCCHHHHH


  AA: AAEKQMKDKQDEEQRLKEERQRTRRMMRTKMRMRRMRRTRRKMRRKMSPARPRTSCREAC


              10        20        30        40        50        60


Conf: 8203129


Pred: HHHHHCC


  AA: LQGWTEA

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
27504244Kondo T, Tasaka T, Tomioka N, et al. Low neutrophil alkaline phosphatase score is a new aspect of calreticulin-mutated myeloproliferative neoplasms. Springerplus. 2016.5(1):1146. Published 2016 Jul 22. doi:10.1186/s40064-016-2829-6
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