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Mutation:
DTL V489I
Summary
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
no data
Minor Allele Frequency: (ESP6500)
[0.3767]
Minor Allele Frequency: (1000 Genomes)
[0.45926500000000003]
PTM Site: 485S
Affected site:
Position: 485
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 489I | SPINRRGSVSS[V/I]VSPK | 4 |
distal
|
| 486L | SPINRRGS[V/L]VSSVSPK | 1 |
proximal
|
PTM Site: 487S
Affected site:
Position: 487
Residue: S
Type: phosphorylation
Impact:
proximalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 489I | INRRGSVSS[V/I]VSPKPP | 2 |
proximal
|
| 486L | INRRGS[V/L]VSSVSPKPP | 1 |
proximal
|
| 493L | INRRGSVSSVSPK[P/L]PP | 6 |
distal
|
PTM Site: 488S
Affected site:
Position: 488
Residue: S
Type: phosphorylation
Impact:
proximalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 489I | NRRGSVSS[V/I]VSPKPPS | 1 |
proximal
|
| 486L | NRRGS[V/L]VSSVSPKPPS | 2 |
network-rewiring
|
| 493L | NRRGSVSSVSPK[P/L]PPS | 5 |
distal
|
PTM Site: 490S
Affected site:
Position: 490
Residue: S
Type: phosphorylation
Impact:
proximalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 489I | RGSVSS[V/I]VSPKPPSSF | 1 |
proximal
|
| 486L | RGS[V/L]VSSVSPKPPSSF | 4 |
distal
|
| 493L | RGSVSSVSPK[P/L]PPSSF | 3 |
distal
|
PTM Site: 495S
Affected site:
Position: 495
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 489I | S[V/I]VSPKPPSSFKMSIR | 6 |
distal
|
| 499K | SVSPKPPSSFK[M/K]MSIR | 4 |
distal
|
| 493L | SVSPK[P/L]PPSSFKMSIR | 2 |
proximal
|
| 497L | SVSPKPPSS[F/L]FKMSIR | 2 |
proximal
|
PTM Site: 496S
Affected site:
Position: 496
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 499K | VSPKPPSSFK[M/K]MSIRN | 3 |
distal
|
| 493L | VSPK[P/L]PPSSFKMSIRN | 3 |
distal
|
| 497L | VSPKPPSS[F/L]FKMSIRN | 1 |
network-rewiring
|
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