Overview




Nucleotide ID c.1122del
Protein ID p.K375Nfs*55
Mutation Deletion
Type Type other
Class Class C (C1)
Category Type 26
COSMIC COSV57127165
Pathologie Myelofibrosis


Structure


# PSIPRED HFORMAT (PSIPRED V4.0)
Conf: 935765027789999999999999999999999999999999999999999999943999
Pred: CHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHCCCC
  AA: AAEKQMKDKQDEEQRLKEEEEDKNAKRRRRQRTRRMMRTKMRMRRMRRTRRKMRRKMSPA
              10        20        30        40        50        60
Conf: 99832999998202129
Pred: CCCCCHHHHHHHHHHCC
  AA: RPRTSCREACLQGWTEA
              70   

References


PMIDCitation
24504025Panagiota V, Thol F, Markus B, et al. Prognostic effect of calreticulin mutations in patients with myelofibrosis after allogeneic hematopoietic stem cell transplantation. Leukemia. 2014.28(7):1552-1555. doi:10.1038/leu.2014.66
24325356Klampfl T, Gisslinger H, Harutyunyan AS, et al. Somatic mutations of calreticulin in myeloproliferative neoplasms. N Engl J Med. 2013.369(25):2379-2390. doi:10.1056/NEJMoa1311347