Overview
Nucleotide ID | | c.1154delinsTGTGTC |
| | |
Protein ID | | p.K385Mfs*47 |
| | |
Mutation | | Deletion+Insertion |
| | |
Type | | Type 2-like |
| | |
Class | | Class B |
| | |
Category | | Type 10 |
COSMIC | | COSV57118181 |
| | |
Pathologie | | Myelofibrosis / Essential thrombocythaemia |
Structure
# PSIPRED HFORMAT (PSIPRED V4.0)
Conf: 935765027789999999999999999999999999999999999999999999999439
Pred: CHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHCC
AA: AAEKQMKDKQDEEQRLKEEEEDKKRKEEEEAEDMCRRMMRTKMRMRRMRRTRRKMRRKMS
10 20 30 40 50 60
Conf: 9999832999998202129
Pred: CCCCCCCHHHHHHHHHHCC
AA: PARPRTSCREACLQGWTEA
70
References
PMID | Citation |
---|
25301336 | Tefferi A, Lasho TL, Tischer A, et al. The prognostic advantage of calreticulin mutations in myelofibrosis might be confined to type 1 or type 1-like CALR variants. Blood. 2014.124(15):2465-2466. doi:10.1182/blood-2014-07-588426 |
24791854 | Tefferi A, Wassie EA, Lasho TL, et al. Calreticulin mutations and long-term survival in essential thrombocythemia. Leukemia. 2014.28(12):2300-2303. doi:10.1038/leu.2014.148 |
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 |
24569778 | Tefferi A, Lasho TL, Finke C, et al. Type 1 vs type 2 calreticulin mutations in primary myelofibrosis: differences in phenotype and prognostic impact. Leukemia. 2014.28(7):1568-1570. doi:10.1038/leu.2014.83 |
24366362 | Rumi E, Pietra D, Ferretti V, et al. JAK2 or CALR mutation status defines subtypes of essential thrombocythemia with substantially different clinical course and outcomes. Blood. 2014.123(10):1544-1551. doi:10.1182/blood-2013-11-539098 |