Overview



Nucleotide ID c.1135_1152delinsCCTCCTCTTTGTCT
Protein ID p.E379Pfs*50
Mutation Deletion+Insertion
Type Type other
Class Class C (C1)
Category Type 29
COSMIC COSV57139539
Pathologie Myelofibrosis / Essential thrombocythaemia


Structure

# PSIPRED HFORMAT (PSIPRED V4.0)


Conf: 935765027789999999999996419847999999999999999999999999439999


Pred: CHHHHHHHHHHHHHHHHHHHHHHHHCCCHHHHHHHHHHHHHHHHHHHHHHHHHHHCCCCC


  AA: AAEKQMKDKQDEEQRLKEEEEDKKRKEPPLCLRRMMRTKMRMRRMRRTRRKMRRKMSPAR


              10        20        30        40        50        60


Conf: 9832999998202139


Pred: CCCCHHHHHHHHHHCC


  AA: PRTSCREACLQGWTEA


              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