You are viewing an updated version (2021) of the ActiveDriverDB. To view the previous version please visit activedriverdb.org/v2020
Mutation:
BLM D329H
Summary
Isoform:
Position:
329
Ref:
D
Mutation:
H
PTM impact:
proximal
PTM affected:
5
Kinases:
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: 323K
Affected site:
Position: 323
Residue: K
Type: ubiquitination
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 318W | SK[C/W]CLSTLKDLDTSDR | 5 |
distal
|
| 319F | SKC[L/F]LSTLKDLDTSDR | 4 |
distal
|
| 320T | SKCL[S/T]STLKDLDTSDR | 3 |
distal
|
| 323R | SKCLSTL[K/R]KDLDTSDR | 0 |
direct
|
| 327S | SKCLSTLKDLD[T/S]TSDR | 4 |
distal
|
| 329H | SKCLSTLKDLDTS[D/H]DR | 6 |
distal
|
| 328C | SKCLSTLKDLDT[S/C]SDR | 5 |
distal
|
PTM Site: 327T
Affected site:
Position: 327
Residue: T
Type: phosphorylation
Impact:
proximalOther 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:
proximalOther 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: ubiquitination, sumoylation
Impact:
proximalOther 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:
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
|
If you have any questions or feedback about this mutation:
Contact us