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Mutation:
BLM V67I
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: 68T
Affected site:
Position: 68
Residue: T
Type: phosphorylation
Impact:
proximalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 62K | R[N/K]NKDVNVTEDFSFSE | 6 |
distal
|
| 64H | RNK[D/H]DVNVTEDFSFSE | 4 |
distal
|
| 64A | RNK[D/A]DVNVTEDFSFSE | 4 |
distal
|
| 64V | RNK[D/V]DVNVTEDFSFSE | 4 |
distal
|
| 65I | RNKD[V/I]VNVTEDFSFSE | 3 |
distal
|
| 67I | RNKDVN[V/I]VTEDFSFSE | 1 |
proximal
|
| 67D | RNKDVN[V/D]VTEDFSFSE | 1 |
proximal
|
| 69K | RNKDVNVT[E/K]EDFSFSE | 1 |
proximal
|
| 70N | RNKDVNVTE[D/N]DFSFSE | 2 |
proximal
|
| 72A | RNKDVNVTEDF[S/A]SFSE | 4 |
distal
|
| 74G | RNKDVNVTEDFSF[S/G]SE | 6 |
distal
|
| 68N | RNKDVNV[T/N]TEDFSFSE | 0 |
direct
|
PTM Site: 72S
Affected site:
Position: 72
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 67I | VN[V/I]VTEDFSFSEPLPN | 5 |
distal
|
| 67D | VN[V/D]VTEDFSFSEPLPN | 5 |
distal
|
| 69K | VNVT[E/K]EDFSFSEPLPN | 3 |
distal
|
| 70N | VNVTE[D/N]DFSFSEPLPN | 2 |
proximal
|
| 72A | VNVTEDF[S/A]SFSEPLPN | 0 |
direct
|
| 74G | VNVTEDFSF[S/G]SEPLPN | 2 |
proximal
|
| 76T | VNVTEDFSFSE[P/T]PLPN | 4 |
distal
|
| 76S | VNVTEDFSFSE[P/S]PLPN | 4 |
distal
|
| 77V | VNVTEDFSFSEP[L/V]LPN | 5 |
distal
|
| 68N | VNV[T/N]TEDFSFSEPLPN | 4 |
distal
|
| 75K | VNVTEDFSFS[E/K]EPLPN | 3 |
network-rewiring
|
PTM Site: 74S
Affected site:
Position: 74
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 69K | VT[E/K]EDFSFSEPLPNTT | 5 |
distal
|
| 70N | VTE[D/N]DFSFSEPLPNTT | 4 |
distal
|
| 72A | VTEDF[S/A]SFSEPLPNTT | 2 |
proximal
|
| 74G | VTEDFSF[S/G]SEPLPNTT | 0 |
direct
|
| 76T | VTEDFSFSE[P/T]PLPNTT | 2 |
proximal
|
| 76S | VTEDFSFSE[P/S]PLPNTT | 2 |
proximal
|
| 77V | VTEDFSFSEP[L/V]LPNTT | 3 |
distal
|
| 80A | VTEDFSFSEPLPN[T/A]TT | 6 |
distal
|
| 68N | V[T/N]TEDFSFSEPLPNTT | 6 |
distal
|
| 75K | VTEDFSFS[E/K]EPLPNTT | 1 |
proximal
|
External references
dbSNP:
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