Overview




Nucleotide ID c.1153_1154delinsTCTTGTC
Protein ID p.K385Sfs*47
Mutation Deletion+Insertion
Type Type 2-like
Class Class B
Category #NA
COSMIC COSV57121518
Pathologie Essential thrombocythaemia


Structure


# PSIPRED HFORMAT (PSIPRED V4.0)
Conf: 935765027789999999999999999999999999999999999999999999999439
Pred: CHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHCC
  AA: AAEKQMKDKQDEEQRLKEEEEDKKRKEEEEAEDSCRRMMRTKMRMRRMRRTRRKMRRKMS
              10        20        30        40        50        60
Conf: 9999832999998202129
Pred: CCCCCCCHHHHHHHHHHCC
  AA: PARPRTSCREACLQGWTEA
              70     

References


PMIDCitation
24325359Nangalia J, Massie CE, Baxter EJ, et al. Somatic CALR mutations in myeloproliferative neoplasms with nonmutated JAK2. N Engl J Med. 2013.369(25):2391-2405. doi:10.1056/NEJMoa1312542