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Mutation:
BLM K323R
Summary
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
Hereditary cancer-predisposing syndrome, Bloom syndrome
Minor Allele Frequency: (ESP6500)
[0.0462]
Minor Allele Frequency: (1000 Genomes)
no data
PTM Site: 317K
Affected site:
Position: 317
Residue: K
Type: sumoylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 311S | S[A/S]ASSSSSKCLSTLKD | 6 |
distal
|
| 312T | SA[S/T]SSSSSKCLSTLKD | 5 |
distal
|
| 312A | SA[S/A]SSSSSKCLSTLKD | 5 |
distal
|
| 315F | SASSS[S/F]SSKCLSTLKD | 2 |
proximal
|
| 318W | SASSSSSK[C/W]CLSTLKD | 1 |
proximal
|
| 319F | SASSSSSKC[L/F]LSTLKD | 2 |
proximal
|
| 320T | SASSSSSKCL[S/T]STLKD | 3 |
distal
|
| 323R | SASSSSSKCLSTL[K/R]KD | 6 |
distal
|
PTM Site: 323K
Affected site:
Position: 323
Residue: K
Type: ubiquitination
Impact:
directOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 318W | SK[C/W]CLSTLKDLDTSDR | 5 |
distal
|
| 319F | SKC[L/F]LSTLKDLDTSDR | 4 |
distal
|
| 320T | SKCL[S/T]STLKDLDTSDR | 3 |
distal
|
| 323R | SKCLSTL[K/R]KDLDTSDR | 0 |
direct
|
| 327S | SKCLSTLKDLD[T/S]TSDR | 4 |
distal
|
| 329H | SKCLSTLKDLDTS[D/H]DR | 6 |
distal
|
| 328C | SKCLSTLKDLDT[S/C]SDR | 5 |
distal
|
PTM Site: 327T
Affected site:
Position: 327
Residue: T
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 323R | STL[K/R]KDLDTSDRKEDV | 4 |
distal
|
| 327S | STLKDLD[T/S]TSDRKEDV | 0 |
direct
|
| 329H | STLKDLDTS[D/H]DRKEDV | 2 |
proximal
|
| 331E | STLKDLDTSDR[K/E]KEDV | 4 |
distal
|
| 331T | STLKDLDTSDR[K/T]KEDV | 4 |
distal
|
| 332Q | STLKDLDTSDRK[E/Q]EDV | 5 |
distal
|
| 328C | STLKDLDT[S/C]SDRKEDV | 1 |
proximal
|
PTM Site: 328S
Affected site:
Position: 328
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 323R | TL[K/R]KDLDTSDRKEDVL | 5 |
distal
|
| 327S | TLKDLD[T/S]TSDRKEDVL | 1 |
proximal
|
| 329H | TLKDLDTS[D/H]DRKEDVL | 1 |
proximal
|
| 331E | TLKDLDTSDR[K/E]KEDVL | 3 |
network-rewiring
|
| 331T | TLKDLDTSDR[K/T]KEDVL | 3 |
distal
|
| 332Q | TLKDLDTSDRK[E/Q]EDVL | 4 |
distal
|
| 334D | TLKDLDTSDRKED[V/D]VL | 6 |
distal
|
| 328C | TLKDLDT[S/C]SDRKEDVL | 0 |
direct
|
External references
dbSNP:
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