Overview



Nucleotide ID c.1141del
Protein ID p.E381Rfs*49
Mutation Deletion
Type Type 2-like
Class Class B
Category #NA
COSMIC COSV57123940
Pathologie Essential thrombocythaemia


Structure

# PSIPRED HFORMAT (PSIPRED V4.0)


Conf: 935765027789999999999999999999999999999999999999999999943999


Pred: CHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHCCCC


  AA: AAEKQMKDKQDEEQRLKEEEEDKKRKEEERQRTRRMMRTKMRMRRMRRTRRKMRRKMSPA


              10        20        30        40        50        60


Conf: 99832999998202129


Pred: CCCCCHHHHHHHHHHCC


  AA: RPRTSCREACLQGWTEA


              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
24366362Rumi E, Pietra D, Ferretti V, et al. JAK2 or CALR mutation status defines subtypes of essential thrombocythemia with substantially different clinical course and outcomes. Blood. 2014.123(10):1544-1551. doi:10.1182/blood-2013-11-539098