PLCG1
VESM_IC_IL413
Summary
1291
Total Residues
7
Essential Clusters
6
Inhibitory Clusters
12
Disease Variants
1D Ergotope Profile
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Ergotope scores along the protein sequence. Negative scores (green) = essential for function, Positive scores (red) = inhibitory. Markers indicate disease variants: cancer / germline.
3D Structure Views
PyMOL renders showing ergotope coloring on the protein structure. Disease variant residues shown as spheres.
Disease Variants
| Position | Mutation | Type | Disease | Ergotope | Source |
|---|---|---|---|---|---|
| 48 | R48W | cancer | Sezary Syndrome (CTCL) | — | literature |
| 312 | S312L | cancer | Sezary Syndrome (CTCL) | — | literature |
| 342 | D342N | cancer | Sezary Syndrome (CTCL) | essential #3 | literature |
| 345 | S345F | cancer | Sezary Syndrome (CTCL) - 19% hotspot | essential #3 | literature |
| 380 | H380R | germline | Eye/neuroinflammation | essential #3 | literature |
| 520 | S520F | cancer | Sezary Syndrome (CTCL) | — | literature |
| 597 | L597F | germline | Immune/sensory | — | literature |
| 1019 | D1019G | germline | Hearing/cardiac defects | essential #3 | literature |
| 1021 | S1021F | germline | APLS (immune) | essential #3 | literature |
| 1158 | R1158H | cancer | Sezary Syndrome (CTCL) | — | literature |
| 1163 | E1163K | cancer | Sezary Syndrome (CTCL) | — | literature |
| 1165 | D1165H/G | cancer | CTCL + syndrome | — | literature |