Overview



Nucleotide ID c.1127_1145del
Protein ID p.R376Qfs*48
Mutation Deletion
Type Type other
Class Class C (C1)
Category #NA
COSMIC COSV57118606
Pathologie Essential thrombocythaemia


Structure

# PSIPRED HFORMAT (PSIPRED V4.0)


Conf: 935765027789999999999999999999999999999999999999943999998329


Pred: CHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHCCCCCCCCCH


  AA: AAEKQMKDKQDEEQRLKEEEEDKKQRTRRMMRTKMRMRRMRRTRRKMRRKMSPARPRTSC


              10        20        30        40        50        60


Conf: 99998203129


Pred: HHHHHHHHHCC


  AA: REACLQGWTEA


              70

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
25398833Shirane S, Araki M, Morishita S, et al. JAK2, CALR, and MPL mutation spectrum in Japanese patients with myeloproliferative neoplasms. Haematologica. 2015.100(2):e46-e48. doi:10.3324/haematol.2014.115113
25746303Li N, Yao QM, Gale RP, et al. Frequency and allele burden of CALR mutations in Chinese with essential thrombocythemia and primary myelofibrosis without JAK2(V617F) or MPL mutations. Leuk Res. 2015.39(5):510-514. doi:10.1016/j.leukres.2015.02.006