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Mutation:
BLM N46K
Summary
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: 39K
Affected site:
Position: 39
Residue: K
Type: methylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 33L | F[S/L]SGFTFKKKTSSDNN | 6 |
distal
|
| 36S | FSGF[T/S]TFKKKTSSDNN | 3 |
distal
|
| 42P | FSGFTFKKKT[S/P]SSDNN | 3 |
distal
|
| 44G | FSGFTFKKKTSS[D/G]DNN | 5 |
distal
|
| 45S | FSGFTFKKKTSSD[N/S]NN | 6 |
distal
|
| 41I | FSGFTFKKK[T/I]TSSDNN | 2 |
proximal
|
PTM Site: 40K
Affected site:
Position: 40
Residue: K
Type: sumoylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 36S | SGF[T/S]TFKKKTSSDNNV | 4 |
distal
|
| 42P | SGFTFKKKT[S/P]SSDNNV | 2 |
proximal
|
| 44G | SGFTFKKKTSS[D/G]DNNV | 4 |
distal
|
| 45S | SGFTFKKKTSSD[N/S]NNV | 5 |
distal
|
| 46S | SGFTFKKKTSSDN[N/S]NV | 6 |
distal
|
| 46K | SGFTFKKKTSSDN[N/K]NV | 6 |
distal
|
| 41I | SGFTFKKK[T/I]TSSDNNV | 1 |
proximal
|
PTM Site: 43S
Affected site:
Position: 43
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 42P | TFKKKT[S/P]SSDNNVSVT | 1 |
proximal
|
| 44G | TFKKKTSS[D/G]DNNVSVT | 1 |
proximal
|
| 45S | TFKKKTSSD[N/S]NNVSVT | 2 |
proximal
|
| 46S | TFKKKTSSDN[N/S]NVSVT | 3 |
distal
|
| 46K | TFKKKTSSDN[N/K]NVSVT | 3 |
distal
|
| 48T | TFKKKTSSDNNV[S/T]SVT | 5 |
distal
|
| 49I | TFKKKTSSDNNVS[V/I]VT | 6 |
distal
|
| 49A | TFKKKTSSDNNVS[V/A]VT | 6 |
distal
|
| 41I | TFKKK[T/I]TSSDNNVSVT | 2 |
proximal
|
PTM Site: 48S
Affected site:
Position: 48
Residue: S
Type: phosphorylation
Impact:
proximalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 42P | T[S/P]SSDNNVSVTNVSVA | 6 |
distal
|
| 44G | TSS[D/G]DNNVSVTNVSVA | 4 |
distal
|
| 45S | TSSD[N/S]NNVSVTNVSVA | 3 |
distal
|
| 46S | TSSDN[N/S]NVSVTNVSVA | 2 |
proximal
|
| 46K | TSSDN[N/K]NVSVTNVSVA | 2 |
proximal
|
| 48T | TSSDNNV[S/T]SVTNVSVA | 0 |
direct
|
| 49I | TSSDNNVS[V/I]VTNVSVA | 1 |
proximal
|
| 49A | TSSDNNVS[V/A]VTNVSVA | 1 |
proximal
|
| 53T | TSSDNNVSVTNV[S/T]SVA | 5 |
distal
|
PTM Site: 50T
Affected site:
Position: 50
Residue: T
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 44G | S[D/G]DNNVSVTNVSVAKT | 6 |
distal
|
| 45S | SD[N/S]NNVSVTNVSVAKT | 5 |
distal
|
| 46S | SDN[N/S]NVSVTNVSVAKT | 4 |
distal
|
| 46K | SDN[N/K]NVSVTNVSVAKT | 4 |
distal
|
| 48T | SDNNV[S/T]SVTNVSVAKT | 2 |
proximal
|
| 49I | SDNNVS[V/I]VTNVSVAKT | 1 |
proximal
|
| 49A | SDNNVS[V/A]VTNVSVAKT | 1 |
proximal
|
| 53T | SDNNVSVTNV[S/T]SVAKT | 3 |
distal
|
| 55V | SDNNVSVTNVSV[A/V]AKT | 5 |
distal
|
PTM Site: 53S
Affected site:
Position: 53
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 48T | NV[S/T]SVTNVSVAKTPVL | 5 |
distal
|
| 49I | NVS[V/I]VTNVSVAKTPVL | 4 |
distal
|
| 49A | NVS[V/A]VTNVSVAKTPVL | 4 |
distal
|
| 53T | NVSVTNV[S/T]SVAKTPVL | 0 |
direct
|
| 55V | NVSVTNVSV[A/V]AKTPVL | 2 |
proximal
|
| 58T | NVSVTNVSVAKT[P/T]PVL | 5 |
distal
|
| 58S | NVSVTNVSVAKT[P/S]PVL | 5 |
distal
|
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