Overview
Nucleotide ID | | c.1155_1156insTGTCG |
| | |
Protein ID | | p.E386Cfs*46 |
| | |
Mutation | | Insertion |
| | |
Type | | Type 2-like |
| | |
Class | | Class B |
| | |
Category | | Type 36 |
COSMIC | | COSV57117852 |
| | |
Pathologie | | Myelofibrosis / Essential thrombocythaemia |
Structure
# PSIPRED HFORMAT (PSIPRED V4.0)
Conf: 935765027789999999999999999999999999999999999999999999999439
Pred: CHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHCC
AA: AAEKQMKDKQDEEQRLKEEEEDKKRKEEEEAEDKCRRMMRTKMRMRRMRRTRRKMRRKMS
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 |
26375990 | Guo H, Chen X, Tian R, et al. Frequencies, Laboratory Features, and Granulocyte Activation in Chinese Patients with CALR-Mutated Myeloproliferative Neoplasms [published correction appears in PLoS One. 2015.10(10):e0141173]. PLoS One. 2015.10(9):e0138250. Published 2015 Sep 16. doi:10.1371/journal.pone.0138250 |
27521277 | Panovska-Stavridis I, Eftimov A, Ivanovski M, et al. Diversities of Calreticulin Gene Mutations in Macedonian Patients With Essential Thrombocythemia. Clin Lymphoma Myeloma Leuk. 2016.16(8):477-481. doi:10.1016/j.clml.2016.04.019 |
25746303 | Li N, Yao QM, Gale RP, et al. Frequency and allele burden of CALR mutations in Chinese with essential thrombocythemia and primary myelofibrosis without JAK2(V617F) or MPL mutations. Leuk Res. 2015.39(5):510-514. doi:10.1016/j.leukres.2015.02.006 |
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 |
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 |
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 |