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Mutation:
TSC1 D686G
Summary
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
Minor Allele Frequency: (ESP6500)
no data
Minor Allele Frequency: (1000 Genomes)
no data
PTM Site: 682S
Affected site:
Position: 682
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 686G | DWTHFGGSPPS[D/G]DEIR | 4 |
distal
|
| 686N | DWTHFGGSPPS[D/N]DEIR | 4 |
distal
|
| 684R | DWTHFGGSP[P/R]PSDEIR | 2 |
network-rewiring
|
| 684S | DWTHFGGSP[P/S]PSDEIR | 2 |
proximal
|
| 683R | DWTHFGGS[P/R]PPSDEIR | 1 |
network-rewiring
|
| 682P | DWTHFGG[S/P]SPPSDEIR | 0 |
direct
|
| 681S | DWTHFG[G/S]GSPPSDEIR | 1 |
proximal
|
| 680E | DWTHF[G/E]GGSPPSDEIR | 2 |
network-rewiring
|
| 680R | DWTHF[G/R]GGSPPSDEIR | 2 |
network-rewiring
|
| 678L | DWT[H/L]HFGGSPPSDEIR | 4 |
distal
|
| 678R | DWT[H/R]HFGGSPPSDEIR | 4 |
distal
|
| 678Y | DWT[H/Y]HFGGSPPSDEIR | 4 |
distal
|
| 677I | DW[T/I]THFGGSPPSDEIR | 5 |
distal
|
| 676R | D[W/R]WTHFGGSPPSDEIR | 6 |
distal
|
External references
dbSNP:
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