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Mutation:
BLM S343A
Summary
Isoform:
Position:
343
Ref:
S
Mutation:
A
PTM impact:
direct
PTM affected:
8
Kinases:
NEK11
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
Hereditary cancer-predisposing syndrome, Bloom syndrome
Minor Allele Frequency: (ESP6500)
no data
Minor Allele Frequency: (1000 Genomes)
no data
PTM Site: 336S
Affected site:
Position: 336
Residue: S
Type: phosphorylation
Impact:
distalOther 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
|
PTM Site: 343S
Affected site:
Position: 343
Residue: S
Type: phosphorylation
Impact:
directOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 339E | STS[K/E]KDLLSKPEKMSM | 4 |
distal
|
| 340N | STSK[D/N]DLLSKPEKMSM | 3 |
distal
|
| 340H | STSK[D/H]DLLSKPEKMSM | 3 |
distal
|
| 342S | STSKDL[L/S]LSKPEKMSM | 1 |
proximal
|
| 343A | STSKDLL[S/A]SKPEKMSM | 0 |
direct
|
| 344N | STSKDLLS[K/N]KPEKMSM | 1 |
proximal
|
| 347E | STSKDLLSKPE[K/E]KMSM | 4 |
distal
|
| 348I | STSKDLLSKPEK[M/I]MSM | 5 |
distal
|
| 349G | STSKDLLSKPEKM[S/G]SM | 6 |
distal
|
| 349N | STSKDLLSKPEKM[S/N]SM | 6 |
distal
|
| 348V | STSKDLLSKPEK[M/V]MSM | 5 |
distal
|
PTM Site: 344K
Affected site:
Position: 344
Residue: K
Type: sumoylation, ubiquitination
Impact:
proximalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 339E | TS[K/E]KDLLSKPEKMSMQ | 5 |
distal
|
| 340N | TSK[D/N]DLLSKPEKMSMQ | 4 |
distal
|
| 340H | TSK[D/H]DLLSKPEKMSMQ | 4 |
distal
|
| 342S | TSKDL[L/S]LSKPEKMSMQ | 2 |
proximal
|
| 343A | TSKDLL[S/A]SKPEKMSMQ | 1 |
proximal
|
| 344N | TSKDLLS[K/N]KPEKMSMQ | 0 |
direct
|
| 347E | TSKDLLSKPE[K/E]KMSMQ | 3 |
distal
|
| 348I | TSKDLLSKPEK[M/I]MSMQ | 4 |
distal
|
| 349G | TSKDLLSKPEKM[S/G]SMQ | 5 |
distal
|
| 349N | TSKDLLSKPEKM[S/N]SMQ | 5 |
distal
|
| 348V | TSKDLLSKPEK[M/V]MSMQ | 4 |
distal
|
PTM Site: 347K
Affected site:
Position: 347
Residue: K
Type: sumoylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 342S | DL[L/S]LSKPEKMSMQELN | 5 |
distal
|
| 343A | DLL[S/A]SKPEKMSMQELN | 4 |
distal
|
| 344N | DLLS[K/N]KPEKMSMQELN | 3 |
distal
|
| 347E | DLLSKPE[K/E]KMSMQELN | 0 |
direct
|
| 348I | DLLSKPEK[M/I]MSMQELN | 1 |
proximal
|
| 349G | DLLSKPEKM[S/G]SMQELN | 2 |
proximal
|
| 349N | DLLSKPEKM[S/N]SMQELN | 2 |
proximal
|
| 352K | DLLSKPEKMSMQ[E/K]ELN | 5 |
distal
|
| 353V | DLLSKPEKMSMQE[L/V]LN | 6 |
distal
|
| 348V | DLLSKPEK[M/V]MSMQELN | 1 |
proximal
|
PTM Site: 349S
Affected site:
Position: 349
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 343A | L[S/A]SKPEKMSMQELNPE | 6 |
distal
|
| 344N | LS[K/N]KPEKMSMQELNPE | 5 |
distal
|
| 347E | LSKPE[K/E]KMSMQELNPE | 2 |
network-rewiring
|
| 348I | LSKPEK[M/I]MSMQELNPE | 1 |
proximal
|
| 349G | LSKPEKM[S/G]SMQELNPE | 0 |
direct
|
| 349N | LSKPEKM[S/N]SMQELNPE | 0 |
direct
|
| 352K | LSKPEKMSMQ[E/K]ELNPE | 3 |
distal
|
| 353V | LSKPEKMSMQE[L/V]LNPE | 4 |
distal
|
| 355R | LSKPEKMSMQELN[P/R]PE | 6 |
distal
|
| 355L | LSKPEKMSMQELN[P/L]PE | 6 |
distal
|
| 348V | LSKPEK[M/V]MSMQELNPE | 1 |
proximal
|
External references
dbSNP:
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