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Mutation:
BLM S53T
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: 48S
Affected site:
Position: 48
Residue: S
Type: phosphorylation
Impact:
distalOther 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:
directOther 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
|
PTM Site: 56K
Affected site:
Position: 56
Residue: K
Type: sumoylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 53T | VTNV[S/T]SVAKTPVLRNK | 3 |
distal
|
| 55V | VTNVSV[A/V]AKTPVLRNK | 1 |
proximal
|
| 58T | VTNVSVAKT[P/T]PVLRNK | 2 |
proximal
|
| 58S | VTNVSVAKT[P/S]PVLRNK | 2 |
proximal
|
| 60I | VTNVSVAKTPV[L/I]LRNK | 4 |
distal
|
| 61I | VTNVSVAKTPVL[R/I]RNK | 5 |
distal
|
| 62K | VTNVSVAKTPVLR[N/K]NK | 6 |
distal
|
| 61K | VTNVSVAKTPVL[R/K]RNK | 5 |
distal
|
PTM Site: 57T
Affected site:
Position: 57
Residue: T
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 53T | TNV[S/T]SVAKTPVLRNKD | 4 |
distal
|
| 55V | TNVSV[A/V]AKTPVLRNKD | 2 |
proximal
|
| 58T | TNVSVAKT[P/T]PVLRNKD | 1 |
network-rewiring
|
| 58S | TNVSVAKT[P/S]PVLRNKD | 1 |
network-rewiring
|
| 60I | TNVSVAKTPV[L/I]LRNKD | 3 |
distal
|
| 61I | TNVSVAKTPVL[R/I]RNKD | 4 |
distal
|
| 62K | TNVSVAKTPVLR[N/K]NKD | 5 |
distal
|
| 61K | TNVSVAKTPVL[R/K]RNKD | 4 |
distal
|
External references
dbSNP:
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