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Mutation:
BLM D64V
Summary
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
Bloom syndrome, Hereditary cancer-predisposing syndrome
Minor Allele Frequency: (ESP6500)
[0.0231]
Minor Allele Frequency: (1000 Genomes)
no data
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
|
PTM Site: 68T
Affected site:
Position: 68
Residue: T
Type: phosphorylation
Impact:
distalOther 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
|
External references
dbSNP:
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