AI-Edigene? BCR-ABL1 (E13-E2) Fusion with ABL1 p.T315I Plus
CBP20222R
| Introduction | |
| Format | RNA |
| Description |
Presence of a BCR-ABL1 fusion gene is necessary for the pathogenesis of CML. In up to 95% of cases, a t(9;22) (q34;q11) translocation results in the BCR-ABL1 fusion gene (Faderl et al. 1999). This translocation results in the Philadephia chromosome. In rare CML cases lacking the traditional t(9;22) translocation, other translocations result in the creation of the BCR-ABL1 fusion gene, which sometimes involve multiple chromosomes. ABL1 T315I is a gatekeeper mutation that lies within the hinge region of the protein kinase domain of the Abl1 protein (PMID: 18794843). T315I has been demonstrated to occur as a secondary resistance mutation and results in increased kinase activity and transformation in the context of BCR-ABL1 in cell culture (PMID: 11423618, PMID: 18794843, PMID: 27890928), and results in reduced catalytic efficiency (kcat/km) in an in vitro assay (PMID: 30684523), but has not been fully characterized and therefore, its effect on Abl1 protein function is unknown. |
| Technical Data | |
| Fusion | Left Gene: BCR(E13) |
| Left Breakpoint: hg19 chr22:23631808:+ | |
| Right Gene: ABL1(E2) | |
| Right Breakpoint: hg19 chr9:133729451:+ | |
| Mutation | DNA Change: c.944C>T |
| AA Change: p.T315I | |
| Product Information | |
| Intended Use | Research Use Only |
| Unit Size | 1ug |
| Concentration | Download for COA |
| Purity | Download for COA |
| RNA electrophoresis | Download for COA |
| Sanger sequencing |
Figure 1. BCR-ABL1 (E13-E2) Fusion
Figure 2. ABL1 p.T315I |
| Storage | -90~ -70℃ |
| Expiry | 12 months from the date of manufacture |
