Overview



Nucleotide ID c.1123_1125delinsTGTTT
Protein ID p.K375Cfs*56
Mutation Deletion+Insertion
Type Type other
Class Class C (C1)
Category Type 27
COSMIC COSV57138397
Pathologie Myelofibrosis / Essential thrombocythaemia


Structure

# PSIPRED HFORMAT (PSIPRED V4.0)


Conf: 935765016779999999999999999999999999999999999999999999994399


Pred: CHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHCCC


  AA: AAEKQMKDKQDEEQRLKEEEEDKCFAKRRRRQRTRRMMRTKMRMRRMRRTRRKMRRKMSP


              10        20        30        40        50        60


Conf: 999832999998202129


Pred: CCCCCCHHHHHHHHHHCC


  AA: ARPRTSCREACLQGWTEA


              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
24553179Rumi E, Harutyunyan AS, Pietra D, et al. CALR exon 9 mutations are somatically acquired events in familial cases of essential thrombocythemia or primary myelofibrosis. Blood. 2014.123(15):2416-2419. doi:10.1182/blood-2014-01-550434