Overview



Nucleotide ID c.1137_1154delinsCCATCCTTGTC
Protein ID p.E379Dfs*49
Mutation Deletion+Insertion
Type Type other
Class Class C (C1)
Category Type 30
COSMIC COSV57132362
Pathologie Myelofibrosis / Essential thrombocythaemia


Structure

# PSIPRED HFORMAT (PSIPRED V4.0)


Conf: 935765027789999999999999860258899999999999999999999994399999


Pred: CHHHHHHHHHHHHHHHHHHHHHHHHHCCCHHHHHHHHHHHHHHHHHHHHHHHHHCCCCCC


  AA: AAEKQMKDKQDEEQRLKEEEEDKKRKEDHPCRRMMRTKMRMRRMRRTRRKMRRKMSPARP


              10        20        30        40        50        60


Conf: 832999998202139


Pred: CCCHHHHHHHHHHCC


  AA: RTSCREACLQGWTEA


              70

References

PMIDCitation
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
29424450Lasho TL, Finke CM, Tischer A, Pardanani A, Tefferi A. Mayo CALR mutation type classification guide using alpha helix propensity. Am J Hematol. 2018.93(5):E128-E129. doi:10.1002/ajh.25065