Overview
Nucleotide ID | | c.1140del |
| | |
Protein ID | | p.E381Rfs*49 |
| | |
Mutation | | Deletion |
| | |
Type | | Type 2-like |
| | |
Class | | Class B |
| | |
Category | | Type 9 |
COSMIC | | #NA |
| | |
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
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 |
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 |