Overview




Nucleotide ID c.1148_1154delinsGAC
Protein ID p.E383Gfs*46
Mutation Deletion+Insertion
Type Type 2-like
Class Class B
Category #NA
COSMIC COSV57120963
Pathologie Essential thrombocythaemia


Structure


# PSIPRED HFORMAT (PSIPRED V4.0)
Conf: 935765027789999999999999999999999999999999999999999999439999
Pred: CHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHCCCCC
  AA: AAEKQMKDKQDEEQRLKEEEEDKKRKEEEEAGRRMMRTKMRMRRMRRTRRKMRRKMSPAR
              10        20        30        40        50        60
Conf: 9832999998202129
Pred: CCCCHHHHHHHHHHCC
  AA: PRTSCREACLQGWTEA
              70  

References


PMIDCitation
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