Overview



Nucleotide ID c.1122_1141delinsA
Protein ID p.K375Rfs*49
Mutation Deletion+Insertion
Type Type other
Class Class C (C1)
Category Type 25
COSMIC COSV57125610
Pathologie Essential thrombocythaemia


Structure

# PSIPRED HFORMAT (PSIPRED V4.0)


Conf: 935765026789999999999999999999999999999999999999943999998329


Pred: CHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHCCCCCCCCCH


  AA: AAEKQMKDKQDEEQRLKEEEEDKRQRTRRMMRTKMRMRRMRRTRRKMRRKMSPARPRTSC


              10        20        30        40        50        60


Conf: 99998203129


Pred: HHHHHHHHHCC


  AA: REACLQGWTEA


              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