Overview



Nucleotide ID c.1101_1134del
Protein ID p.K368Rfs*51
Mutation Deletion
Type Type 1-like
Class Class A
Category Type 14
COSMIC COSV57129614
Pathologie Essential thrombocythaemia


Structure

# PSIPRED HFORMAT (PSIPRED V4.0)


Conf: 935765137679999999999999999999999999999999994499999943999998


Pred: CHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHCCCCCCCCCHHHHHH


  AA: AAEKQMKDKQDEEQRLRRRQRTRRMMRTKMRMRRMRRTRRKMRRKMSPARPRTSCREACL


              10        20        30        40        50        60


Conf: 202139


Pred: HHHHCC


  AA: QGWTEA

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
26343915Riera L, Osella-Abate S, Benevolo G, et al. Novel CALR somatic mutations in essential thrombocythaemia. Br J Haematol. 2016.173(5):797-801. doi:10.1111/bjh.13638