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Mutation:
BCLAF1 Q165H
Summary
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
no data
Minor Allele Frequency: (ESP6500)
[0.0846]
Minor Allele Frequency: (1000 Genomes)
[0.139776]
PTM Site: 161S
Affected site:
Position: 161
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 165H | PVSKRRGSQEK[Q/H]QTKK | 4 |
distal
|
| 156F | PV[S/F]SKRRGSQEKQTKK | 5 |
distal
|
| 167E | PVSKRRGSQEKQT[K/E]KK | 6 |
distal
|
| 163K | PVSKRRGSQ[E/K]EKQTKK | 2 |
proximal
|
| 160W | PVSKRR[G/W]GSQEKQTKK | 1 |
proximal
|
PTM Site: 168K
Affected site:
Position: 168
Residue: K
Type: sumoylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 165H | SQEK[Q/H]QTKKAEGEPQE | 3 |
distal
|
| 170K | SQEKQTKKA[E/K]EGEPQE | 2 |
proximal
|
| 167E | SQEKQT[K/E]KKAEGEPQE | 1 |
proximal
|
| 163K | SQ[E/K]EKQTKKAEGEPQE | 5 |
distal
|
| 171R | SQEKQTKKAE[G/R]GEPQE | 3 |
distal
|
| 170G | SQEKQTKKA[E/G]EGEPQE | 2 |
proximal
|
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