Overview



Nucleotide ID c.1095_1140del
Protein ID p.L367Qfs*47
Mutation Deletion
Type Type 1-like
Class Class A
Category Type 3
COSMIC #NA
Pathologie Essential thrombocythaemia


Structure

# PSIPRED HFORMAT (PSIPRED V4.0)


Conf: 935764026349999999999999999999999999999943999998329999982131


Pred: CHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHCCCCCCCCCHHHHHHHHHH


  AA: AAEKQMKDKQDEEQRQRTRRMMRTKMRMRRMRRTRRKMRRKMSPARPRTSCREACLQGWT


              10        20        30        40        50        60


Conf: 29


Pred: CC


  AA: EA

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
26343915Riera L, Osella-Abate S, Benevolo G, et al. Novel CALR somatic mutations in essential thrombocythaemia. Br J Haematol. 2016.173(5):797-801. doi:10.1111/bjh.13638
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