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Mutation:
BLM L353V
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: 347K
Affected site:
Position: 347
Residue: K
Type: sumoylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 342S | DL[L/S]LSKPEKMSMQELN | 5 |
distal
|
| 343A | DLL[S/A]SKPEKMSMQELN | 4 |
distal
|
| 344N | DLLS[K/N]KPEKMSMQELN | 3 |
distal
|
| 347E | DLLSKPE[K/E]KMSMQELN | 0 |
direct
|
| 348I | DLLSKPEK[M/I]MSMQELN | 1 |
proximal
|
| 349G | DLLSKPEKM[S/G]SMQELN | 2 |
proximal
|
| 349N | DLLSKPEKM[S/N]SMQELN | 2 |
proximal
|
| 352K | DLLSKPEKMSMQ[E/K]ELN | 5 |
distal
|
| 353V | DLLSKPEKMSMQE[L/V]LN | 6 |
distal
|
| 348V | DLLSKPEK[M/V]MSMQELN | 1 |
proximal
|
PTM Site: 349S
Affected site:
Position: 349
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 343A | L[S/A]SKPEKMSMQELNPE | 6 |
distal
|
| 344N | LS[K/N]KPEKMSMQELNPE | 5 |
distal
|
| 347E | LSKPE[K/E]KMSMQELNPE | 2 |
network-rewiring
|
| 348I | LSKPEK[M/I]MSMQELNPE | 1 |
proximal
|
| 349G | LSKPEKM[S/G]SMQELNPE | 0 |
direct
|
| 349N | LSKPEKM[S/N]SMQELNPE | 0 |
direct
|
| 352K | LSKPEKMSMQ[E/K]ELNPE | 3 |
distal
|
| 353V | LSKPEKMSMQE[L/V]LNPE | 4 |
distal
|
| 355R | LSKPEKMSMQELN[P/R]PE | 6 |
distal
|
| 355L | LSKPEKMSMQELN[P/L]PE | 6 |
distal
|
| 348V | LSKPEK[M/V]MSMQELNPE | 1 |
proximal
|
PTM Site: 358S
Affected site:
Position: 358
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 352K | Q[E/K]ELNPETSTDCDARQ | 6 |
distal
|
| 353V | QE[L/V]LNPETSTDCDARQ | 5 |
distal
|
| 355R | QELN[P/R]PETSTDCDARQ | 3 |
network-rewiring
|
| 355L | QELN[P/L]PETSTDCDARQ | 3 |
distal
|
| 363T | QELNPETSTDCD[A/T]ARQ | 5 |
distal
|
| 363V | QELNPETSTDCD[A/V]ARQ | 5 |
distal
|
| 364K | QELNPETSTDCDA[R/K]RQ | 6 |
distal
|
PTM Site: 359T
Affected site:
Position: 359
Residue: T
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 353V | E[L/V]LNPETSTDCDARQI | 6 |
distal
|
| 355R | ELN[P/R]PETSTDCDARQI | 4 |
distal
|
| 355L | ELN[P/L]PETSTDCDARQI | 4 |
distal
|
| 363T | ELNPETSTDCD[A/T]ARQI | 4 |
distal
|
| 363V | ELNPETSTDCD[A/V]ARQI | 4 |
distal
|
| 364K | ELNPETSTDCDA[R/K]RQI | 5 |
distal
|
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