Overview
Nucleotide ID | | c.1104_1137del |
| | |
Protein ID | | p.E369Rfs*50 |
| | |
Mutation | | Deletion |
| | |
Type | | Type 1-like |
| | |
Class | | Class A |
| | |
Category | | Type 8 |
COSMIC | | #NA |
| | |
Pathologie | | Essential thrombocythaemia |
Structure
# PSIPRED HFORMAT (PSIPRED V4.0)
Conf: 935765137769999999999999999999999999999999994499999943999998
Pred: CHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHCCCCCCCCCHHHHHH
AA: AAEKQMKDKQDEEQRLKRRQRTRRMMRTKMRMRRMRRTRRKMRRKMSPARPRTSCREACL
10 20 30 40 50 60
Conf: 202139
Pred: HHHHCC
AA: QGWTEA
References
PMID | Citation |
---|
24325356 | Klampfl 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 |
29306106 | Gángó A, Mózes R, Boha Z, et al. Quantitative assessment of JAK2 V617F and CALR mutations in Philadelphia negative myeloproliferative neoplasms. Leuk Res. 2018.65:42-48. doi:10.1016/j.leukres.2017.12.005 |
29424450 | Lasho 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 |