Overview
Nucleotide ID | | c.1143_1154delinsTCCTTGTC |
| | |
Protein ID | | p.E381Dfs*48 |
| | |
Mutation | | Deletion+Insertion |
| | |
Type | | Type 2-like |
| | |
Class | | Class B |
| | |
Category | | #NA |
COSMIC | | COSV57119915 |
| | |
Pathologie | | Essential thrombocythaemia |
Structure
# PSIPRED HFORMAT (PSIPRED V4.0)
Conf: 935765027789999999999999998316999999999999999999999999439999
Pred: CHHHHHHHHHHHHHHHHHHHHHHHHHHHHCHHHHHHHHHHHHHHHHHHHHHHHHHCCCCC
AA: AAEKQMKDKQDEEQRLKEEEEDKKRKEEEDPCRRMMRTKMRMRRMRRTRRKMRRKMSPAR
10 20 30 40 50 60
Conf: 9832999998202139
Pred: CCCCHHHHHHHHHHCC
AA: PRTSCREACLQGWTEA
70
References
PMID | Citation |
---|
24325359 | Nangalia J, Massie CE, Baxter EJ, et al. Somatic CALR mutations in myeloproliferative neoplasms with nonmutated JAK2. N Engl J Med. 2013.369(25):2391-2405. doi:10.1056/NEJMoa1312542 |
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 |