Overview
| Nucleotide ID | | c.1113A>C |
| | |
| Protein ID | | p.E371D |
| | |
| Mutation | | Substitution |
| | |
| Type | | Type 2-like |
| | |
| Class | | Class E |
| | |
| Category | | #NA |
| COSMIC | | COSV57118921 |
| | |
| Pathologie | | Essential thrombocythaemia |
Structure
# PSIPRED HFORMAT (PSIPRED V4.0)
Conf: 935776237889999999999999999999863203234444223286587676206886
Pred: CHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHHCCCCCCCCCHHHHHHHHHHHHCCCCC
AA: AAEKQMKDKQDEEQRLKEEDEDKKRKEEEEAEDKEDDEDKDEDEEDEEDKEEDEEEDVPG
10 20 30 40 50 60
Conf: 300039
Pred: CCCCCC
AA: QAKDEL
References
| PMID | Citation |
|---|
| 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 |