Overview



Nucleotide ID [c.1113A>C;1122_1140del]
Protein ID p.E371D+K375Rfs*49
Mutation Complex
Type Type other
Class Class C (C1)
Category Type 40
COSMIC #NA
Pathologie Essential thrombocythaemia


Structure

# PSIPRED HFORMAT (PSIPRED V4.0)


Conf: 936776127789999999999999999999999999999999999999944999999439


Pred: CHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHCCCCCCCCCH


  AA: AAEKQMKDKQDEEQRLKEEDEDKRQRTRRMMRTKMRMRRMRRTRRKMRRKMSPARPRTSC


              10        20        30        40        50        60


Conf: 99998202139


Pred: HHHHHHHHHCC


  AA: REACLQGWTEA


              70

References

PMIDCitation
31626697Lee JS, Kim HY, Kim M, Lee YK. A Novel Pathogenic CALR Exon 9 Mutation in a Patient with Essential Thrombocythemia. Lab Med. 2020.51(3):306-309. doi:10.1093/labmed/lmz064
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