Overview




Nucleotide ID c.1102_1153del
Protein ID p.K368Rfs*45
Mutation Deletion
Type Type 1-like
Class Class A
Category Type 7
COSMIC #NA
Pathologie Essential thrombocythaemia


Structure


# PSIPRED HFORMAT (PSIPRED V4.0)
Conf: 935764037569999999999999999999999999994399999832999998213129
Pred: CHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHCCCCCCCCCHHHHHHHHHHCC
  AA: AAEKQMKDKQDEEQRLRRMMRTKMRMRRMRRTRRKMRRKMSPARPRTSCREACLQGWTEA
              10        20        30        40        50        60

References


PMIDCitation
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
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
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