aa5646cf2b4a4b1a861411d75efb5a6e119becd3
BTG1.md
| ... | ... | @@ -43,7 +43,9 @@ BTG1 is one of [a number of genes](https://github.com/morinlab/LLMPP/wiki/ashm) |
| 43 | 43 | |
| 44 | 44 | ## BTG1 Hotspots |
| 45 | 45 | |
| 46 | -*Q36H* Conditional knock-in mouse models expressing the BTG1 Q36H mutation in B cells have shown that these mutations lead to earlier onset of lymphoma, shorter survival, and dysplastic B cell infiltration into non-lymphoid organs. These findings reinforce the role of BTG1 mutations in enhancing lymphoma aggressiveness.<sup>2</sup> |
|
| 46 | +*Q36H* Conditional knock-in mouse models expressing the BTG1 Q36H mutation in B cells have shown that these mutations lead to earlier onset of lymphoma, shorter survival, and dysplastic B cell infiltration into non-lymphoid organs. These findings reinforce the role of BTG1 mutations in enhancing lymphoma aggressiveness.<sup>3</sup> |
|
| 47 | + |
|
| 48 | +*L26P, G66D, and I115V* Have each been shown to be unable to rescue wild-type BTG1 activity in a xenotransplantation model, suggesting that they impair BTG1 function.<sup>2</sup> |
|
| 47 | 49 | |
| 48 | 50 | | Chromosome |Coordinate (hg19) | ref>alt | HGVSp | |
| 49 | 51 | | :---:| :---: | :--: | :---: | |