Overview



Nucleotide ID c.1111_1141del
Protein ID p.E371Rfs*49
Mutation Deletion
Type Type other
Class Class C (C1)
Category #NA
COSMIC COSV57117580
Pathologie Myelofibrosis / Myeloproliferative neoplasm / Essential thrombocythaemia


Structure

# PSIPRED HFORMAT (PSIPRED V4.0)


Conf: 935765026779999999999999999999999999999999999439999983299999


Pred: CHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHCCCCCCCCCHHHHH


  AA: AAEKQMKDKQDEEQRLKEERQRTRRMMRTKMRMRRMRRTRRKMRRKMSPARPRTSCREAC


              10        20        30        40        50        60


Conf: 8203129


Pred: HHHHHCC


  AA: LQGWTEA

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
27504244Kondo T, Tasaka T, Tomioka N, et al. Low neutrophil alkaline phosphatase score is a new aspect of calreticulin-mutated myeloproliferative neoplasms. Springerplus. 2016.5(1):1146. Published 2016 Jul 22. doi:10.1186/s40064-016-2829-6