0eeafc99ac167af534f2be30852b3e73e40ce8c6
CCND3.md
| ... | ... | @@ -38,9 +38,9 @@ CCND3 (Cyclin D3) is a gene that encodes a protein involved in the regulation of |
| 38 | 38 | ## CCND3 Hotspots |
| 39 | 39 | |
| 40 | 40 | ### Exon 5 Hotspot |
| 41 | -E283 (Glutamic Acid 283): One of the most frequently mutated sites in CCND3. Mutations at this site can result in enhanced cyclin D3 stability and increased cell cycle progression. |
|
| 41 | +T283 (Threonine 283): One of the most frequently mutated sites in CCND3. Mutations at this site can result in enhanced cyclin D3 stability and increased cell cycle progression. |
|
| 42 | 42 | |
| 43 | -D290 (Aspartic Acid 290): Another common mutation in exon 5. Mutations here are associated with similar functional impacts as E283, promoting uncontrolled cell proliferation. |
|
| 43 | +I290 (Isoleucine 290): Another common mutation in exon 5. Mutations here are associated with similar functional impacts as E283, promoting uncontrolled cell proliferation. |
|
| 44 | 44 | |
| 45 | 45 | ### Exon 1 and Exon 2 |
| 46 | 46 | While exon 5 is the primary hotspot, mutations in exon 1 and exon 2 have also been observed, though less frequently. These mutations can affect the regulatory regions of the gene, potentially increasing levels of CCND3 by promoting stability of the protein. |