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Mutation:
BLM S33L
Summary
Clinical Information
Cancer types: (TCGA MC3)
SKCM
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
Bloom syndrome, Hereditary cancer-predisposing syndrome
Minor Allele Frequency: (ESP6500)
no data
Minor Allele Frequency: (1000 Genomes)
[0.0199681]
PTM Site: 26S
Affected site:
Position: 26
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 21V | RT[L/V]LNNKLSLSKPKFS | 5 |
distal
|
| 22D | RTL[N/D]NNKLSLSKPKFS | 4 |
distal
|
| 30L | RTLNNKLSLSK[P/L]PKFS | 4 |
distal
|
PTM Site: 28S
Affected site:
Position: 28
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 22D | L[N/D]NNKLSLSKPKFSGF | 6 |
distal
|
| 33L | LNNKLSLSKPKF[S/L]SGF | 5 |
distal
|
| 30L | LNNKLSLSK[P/L]PKFSGF | 2 |
proximal
|
PTM Site: 31K
Affected site:
Position: 31
Residue: K
Type: sumoylation
Impact:
proximalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 33L | KLSLSKPKF[S/L]SGFTFK | 2 |
proximal
|
| 36S | KLSLSKPKFSGF[T/S]TFK | 5 |
distal
|
| 30L | KLSLSK[P/L]PKFSGFTFK | 1 |
proximal
|
PTM Site: 33S
Affected site:
Position: 33
Residue: S
Type: phosphorylation
Impact:
directOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 33L | SLSKPKF[S/L]SGFTFKKK | 0 |
direct
|
| 36S | SLSKPKFSGF[T/S]TFKKK | 3 |
distal
|
| 30L | SLSK[P/L]PKFSGFTFKKK | 3 |
distal
|
PTM Site: 36T
Affected site:
Position: 36
Residue: T
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 33L | KPKF[S/L]SGFTFKKKTSS | 3 |
distal
|
| 36S | KPKFSGF[T/S]TFKKKTSS | 0 |
direct
|
| 42P | KPKFSGFTFKKKT[S/P]SS | 6 |
distal
|
| 41I | KPKFSGFTFKKK[T/I]TSS | 5 |
distal
|
| 30L | K[P/L]PKFSGFTFKKKTSS | 6 |
distal
|
PTM Site: 38K
Affected site:
Position: 38
Residue: K
Type: methylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 33L | KF[S/L]SGFTFKKKTSSDN | 5 |
distal
|
| 36S | KFSGF[T/S]TFKKKTSSDN | 2 |
proximal
|
| 42P | KFSGFTFKKKT[S/P]SSDN | 4 |
distal
|
| 44G | KFSGFTFKKKTSS[D/G]DN | 6 |
distal
|
| 41I | KFSGFTFKKK[T/I]TSSDN | 3 |
distal
|
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
|
External references
dbSNP:
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