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Mutation:
BLM T80A
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: 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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