Overview




Nucleotide ID c.1129_1139delinsCTCTGCCTCC
Protein ID p.K377Lfs*53
Mutation Deletion+Insertion
Type Type other
Class Class C (C1)
Category #NA
COSMIC COSV57121979
Pathologie Essential thrombocythaemia


Structure


# PSIPRED HFORMAT (PSIPRED V4.0)
Conf: 935776237879999999999999999999999999999999999999999999944999
Pred: CHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHCCCC
  AA: AAEKQMKDKQDEEQRLKEEEEDKKRLCLRRQRTRRMMRTKMRMRRMRRTRRKMRRKMSPA
              10        20        30        40        50        60
Conf: 99943999998202139
Pred: CCCCCHHHHHHHHHHCC
  AA: RPRTSCREACLQGWTEA
              70   

References


PMIDCitation
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