Overview




Nucleotide ID c.1151_1154delinsTTTGTC
Protein ID p.D384Vfs*47
Mutation Deletion+Insertion
Type Type 2-like
Class Class B
Category #NA
COSMIC COSV57121968
Pathologie Essential thrombocythaemia


Structure


# PSIPRED HFORMAT (PSIPRED V4.0)
Conf: 935765027789999999999999999999999999999999999999999999994399
Pred: CHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHCCC
  AA: AAEKQMKDKQDEEQRLKEEEEDKKRKEEEEAEVCRRMMRTKMRMRRMRRTRRKMRRKMSP
              10        20        30        40        50        60
Conf: 999832999998202129
Pred: CCCCCCHHHHHHHHHHCC
  AA: ARPRTSCREACLQGWTEA
              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