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Mutation:
BLM V334D
Summary
Isoform:
Position:
334
Ref:
V
Mutation:
D
PTM impact:
proximal
PTM affected:
7
Kinases:
NEK11
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
Bloom syndrome
Minor Allele Frequency: (ESP6500)
no data
Minor Allele Frequency: (1000 Genomes)
no data
PTM Site: 327T
Affected site:
Position: 327
Residue: T
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 323R | STL[K/R]KDLDTSDRKEDV | 4 |
distal
|
| 327S | STLKDLD[T/S]TSDRKEDV | 0 |
direct
|
| 329H | STLKDLDTS[D/H]DRKEDV | 2 |
proximal
|
| 331E | STLKDLDTSDR[K/E]KEDV | 4 |
distal
|
| 331T | STLKDLDTSDR[K/T]KEDV | 4 |
distal
|
| 332Q | STLKDLDTSDRK[E/Q]EDV | 5 |
distal
|
| 328C | STLKDLDT[S/C]SDRKEDV | 1 |
proximal
|
PTM Site: 328S
Affected site:
Position: 328
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 323R | TL[K/R]KDLDTSDRKEDVL | 5 |
distal
|
| 327S | TLKDLD[T/S]TSDRKEDVL | 1 |
proximal
|
| 329H | TLKDLDTS[D/H]DRKEDVL | 1 |
proximal
|
| 331E | TLKDLDTSDR[K/E]KEDVL | 3 |
network-rewiring
|
| 331T | TLKDLDTSDR[K/T]KEDVL | 3 |
distal
|
| 332Q | TLKDLDTSDRK[E/Q]EDVL | 4 |
distal
|
| 334D | TLKDLDTSDRKED[V/D]VL | 6 |
distal
|
| 328C | TLKDLDT[S/C]SDRKEDVL | 0 |
direct
|
PTM Site: 331K
Affected site:
Position: 331
Residue: K
Type: sumoylation, ubiquitination
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 327S | DLD[T/S]TSDRKEDVLSTS | 4 |
distal
|
| 329H | DLDTS[D/H]DRKEDVLSTS | 2 |
proximal
|
| 331E | DLDTSDR[K/E]KEDVLSTS | 0 |
direct
|
| 331T | DLDTSDR[K/T]KEDVLSTS | 0 |
direct
|
| 332Q | DLDTSDRK[E/Q]EDVLSTS | 1 |
proximal
|
| 334D | DLDTSDRKED[V/D]VLSTS | 3 |
distal
|
| 335V | DLDTSDRKEDV[L/V]LSTS | 4 |
distal
|
| 336G | DLDTSDRKEDVL[S/G]STS | 5 |
distal
|
| 328C | DLDT[S/C]SDRKEDVLSTS | 3 |
distal
|
PTM Site: 336S
Affected site:
Position: 336
Residue: S
Type: phosphorylation
Impact:
proximalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 331E | DR[K/E]KEDVLSTSKDLLS | 5 |
distal
|
| 331T | DR[K/T]KEDVLSTSKDLLS | 5 |
distal
|
| 332Q | DRK[E/Q]EDVLSTSKDLLS | 4 |
distal
|
| 334D | DRKED[V/D]VLSTSKDLLS | 2 |
proximal
|
| 335V | DRKEDV[L/V]LSTSKDLLS | 1 |
proximal
|
| 336G | DRKEDVL[S/G]STSKDLLS | 0 |
direct
|
| 339E | DRKEDVLSTS[K/E]KDLLS | 3 |
network-rewiring
|
| 340N | DRKEDVLSTSK[D/N]DLLS | 4 |
distal
|
| 340H | DRKEDVLSTSK[D/H]DLLS | 4 |
distal
|
| 342S | DRKEDVLSTSKDL[L/S]LS | 6 |
distal
|
PTM Site: 337T
Affected site:
Position: 337
Residue: T
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 331E | R[K/E]KEDVLSTSKDLLSK | 6 |
distal
|
| 331T | R[K/T]KEDVLSTSKDLLSK | 6 |
distal
|
| 332Q | RK[E/Q]EDVLSTSKDLLSK | 5 |
distal
|
| 334D | RKED[V/D]VLSTSKDLLSK | 3 |
distal
|
| 335V | RKEDV[L/V]LSTSKDLLSK | 2 |
proximal
|
| 336G | RKEDVL[S/G]STSKDLLSK | 1 |
proximal
|
| 339E | RKEDVLSTS[K/E]KDLLSK | 2 |
network-rewiring
|
| 340N | RKEDVLSTSK[D/N]DLLSK | 3 |
network-rewiring
|
| 340H | RKEDVLSTSK[D/H]DLLSK | 3 |
network-rewiring
|
| 342S | RKEDVLSTSKDL[L/S]LSK | 5 |
distal
|
| 343A | RKEDVLSTSKDLL[S/A]SK | 6 |
distal
|
PTM Site: 338S
Affected site:
Position: 338
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 332Q | K[E/Q]EDVLSTSKDLLSKP | 6 |
distal
|
| 334D | KED[V/D]VLSTSKDLLSKP | 4 |
distal
|
| 335V | KEDV[L/V]LSTSKDLLSKP | 3 |
distal
|
| 336G | KEDVL[S/G]STSKDLLSKP | 2 |
proximal
|
| 339E | KEDVLSTS[K/E]KDLLSKP | 1 |
proximal
|
| 340N | KEDVLSTSK[D/N]DLLSKP | 2 |
proximal
|
| 340H | KEDVLSTSK[D/H]DLLSKP | 2 |
proximal
|
| 342S | KEDVLSTSKDL[L/S]LSKP | 4 |
distal
|
| 343A | KEDVLSTSKDLL[S/A]SKP | 5 |
distal
|
| 344N | KEDVLSTSKDLLS[K/N]KP | 6 |
distal
|
PTM Site: 339K
Affected site:
Position: 339
Residue: K
Type: ubiquitination
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 334D | ED[V/D]VLSTSKDLLSKPE | 5 |
distal
|
| 335V | EDV[L/V]LSTSKDLLSKPE | 4 |
distal
|
| 336G | EDVL[S/G]STSKDLLSKPE | 3 |
distal
|
| 339E | EDVLSTS[K/E]KDLLSKPE | 0 |
direct
|
| 340N | EDVLSTSK[D/N]DLLSKPE | 1 |
proximal
|
| 340H | EDVLSTSK[D/H]DLLSKPE | 1 |
proximal
|
| 342S | EDVLSTSKDL[L/S]LSKPE | 3 |
distal
|
| 343A | EDVLSTSKDLL[S/A]SKPE | 4 |
distal
|
| 344N | EDVLSTSKDLLS[K/N]KPE | 5 |
distal
|
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