Overview



Nucleotide ID c.1103_1154del
Protein ID p.K368Rfs*45
Mutation Deletion
Type Type 1-like
Class Class A
Category #NA
COSMIC COSV57116700
Pathologie Myelodysplastic-myeloproliferative neoplasm / Myelofibrosis / Essential thrombocythaemia


Structure

# PSIPRED HFORMAT (PSIPRED V4.0)


Conf: 935764037569999999999999999999999999994399999832999998213129


Pred: CHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHCCCCCCCCCHHHHHHHHHHCC


  AA: AAEKQMKDKQDEEQRLRRMMRTKMRMRRMRRTRRKMRRKMSPARPRTSCREACLQGWTEA


              10        20        30        40        50        60

References

PMIDCitation
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
25015052Chen CC, Gau JP, Chou HJ, et al. Frequencies, clinical characteristics, and outcome of somatic CALR mutations in JAK2-unmutated essential thrombocythemia. Ann Hematol. 2014.93(12):2029-2036. doi:10.1007/s00277-014-2151-8
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