Overview



Nucleotide ID c.1147_1154delinsTGTC
Protein ID p.E383Cfs*46
Mutation Deletion+Insertion
Type Type 2-like
Class Class B
Category #NA
COSMIC COSV57125882
Pathologie Essential thrombocythaemia


Structure

# PSIPRED HFORMAT (PSIPRED V4.0)


Conf: 935765027789999999999999999999999999999999999999999999439999


Pred: CHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHCCCCC


  AA: AAEKQMKDKQDEEQRLKEEEEDKKRKEEEEACRRMMRTKMRMRRMRRTRRKMRRKMSPAR


              10        20        30        40        50        60


Conf: 9832999998202129


Pred: CCCCHHHHHHHHHHCC


  AA: PRTSCREACLQGWTEA


              70

References

PMIDCitation
31554376Vu HA, Thao TT, Dong CV, et al. Clinical and Hematological Relevance of JAK2V617F, CALR, and MPL Mutations in Vietnamese Patients with Essential Thrombocythemia. Asian Pac J Cancer Prev. 2019.20(9):2775-2780. Published 2019 Sep 1. doi:10.31557/APJCP.2019.20.9.2775
25801912Palandri F, Latagliata R, Polverelli N, et al. Mutations and long-term outcome of 217 young patients with essential thrombocythemia or early primary myelofibrosis. Leukemia. 2015.29(6):1344-1349. doi:10.1038/leu.2015.87
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