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Mutation:
TSC1 L669S
Summary
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
Tuberous sclerosis 1
Minor Allele Frequency: (ESP6500)
no data
Minor Allele Frequency: (1000 Genomes)
no data
PTM Site: 662K
Affected site:
Position: 662
Residue: K
Type: ubiquitination
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 666R | QGADAHSKELN[K/R]KLPL | 4 |
distal
|
| 665K | QGADAHSKEL[N/K]NKLPL | 3 |
distal
|
| 663V | QGADAHSK[E/V]ELNKLPL | 1 |
proximal
|
| 659V | QGAD[A/V]AHSKELNKLPL | 3 |
distal
|
| 659T | QGAD[A/T]AHSKELNKLPL | 3 |
distal
|
| 658E | QGA[D/E]DAHSKELNKLPL | 4 |
distal
|
| 657G | QG[A/G]ADAHSKELNKLPL | 5 |
distal
|
| 656A | Q[G/A]GADAHSKELNKLPL | 6 |
distal
|
| 657V | QG[A/V]ADAHSKELNKLPL | 5 |
distal
|
PTM Site: 672K
Affected site:
Position: 672
Residue: K
Type: ubiquitination
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 678L | NKLPLPSKSVDWT[H/L]HF | 6 |
distal
|
| 678R | NKLPLPSKSVDWT[H/R]HF | 6 |
distal
|
| 678Y | NKLPLPSKSVDWT[H/Y]HF | 6 |
distal
|
| 677I | NKLPLPSKSVDW[T/I]THF | 5 |
distal
|
| 676R | NKLPLPSKSVD[W/R]WTHF | 4 |
distal
|
| 675Y | NKLPLPSKSV[D/Y]DWTHF | 3 |
distal
|
| 675N | NKLPLPSKSV[D/N]DWTHF | 3 |
distal
|
| 674G | NKLPLPSKS[V/G]VDWTHF | 2 |
proximal
|
| 674I | NKLPLPSKS[V/I]VDWTHF | 2 |
proximal
|
| 673Y | NKLPLPSK[S/Y]SVDWTHF | 1 |
proximal
|
| 669S | NKLP[L/S]LPSKSVDWTHF | 3 |
distal
|
| 666R | N[K/R]KLPLPSKSVDWTHF | 6 |
distal
|
| 675G | NKLPLPSKSV[D/G]DWTHF | 3 |
distal
|
| 673F | NKLPLPSK[S/F]SVDWTHF | 1 |
proximal
|
PTM Site: 673S
Affected site:
Position: 673
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 678L | KLPLPSKSVDWT[H/L]HFG | 5 |
distal
|
| 678R | KLPLPSKSVDWT[H/R]HFG | 5 |
distal
|
| 678Y | KLPLPSKSVDWT[H/Y]HFG | 5 |
distal
|
| 677I | KLPLPSKSVDW[T/I]THFG | 4 |
distal
|
| 676R | KLPLPSKSVD[W/R]WTHFG | 3 |
distal
|
| 675Y | KLPLPSKSV[D/Y]DWTHFG | 2 |
network-rewiring
|
| 675N | KLPLPSKSV[D/N]DWTHFG | 2 |
network-rewiring
|
| 674G | KLPLPSKS[V/G]VDWTHFG | 1 |
proximal
|
| 674I | KLPLPSKS[V/I]VDWTHFG | 1 |
proximal
|
| 673Y | KLPLPSK[S/Y]SVDWTHFG | 0 |
direct
|
| 669S | KLP[L/S]LPSKSVDWTHFG | 4 |
distal
|
| 675G | KLPLPSKSV[D/G]DWTHFG | 2 |
proximal
|
| 673F | KLPLPSK[S/F]SVDWTHFG | 0 |
direct
|
External references
dbSNP:
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