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Mutation:
BCLAF1 P187L
Summary
Isoform:
Position:
187
Ref:
P
Mutation:
L
PTM impact:
proximal
PTM affected:
4
Kinases:
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
no data
Minor Allele Frequency: (ESP6500)
no data
Minor Allele Frequency: (1000 Genomes)
[0.0199681]
PTM Site: 181S
Affected site:
Position: 181
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
Mutation | In sequence | Distance | Impact |
---|---|---|---|
187Q | QEESPLKSKSQEE[P/Q]PK | 6 |
distal
|
177N | QEE[S/N]SPLKSKSQEEPK | 4 |
distal
|
187L | QEESPLKSKSQEE[P/L]PK | 6 |
distal
|
184L | QEESPLKSKS[Q/L]QEEPK | 3 |
distal
|
PTM Site: 183S
Affected site:
Position: 183
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
Mutation | In sequence | Distance | Impact |
---|---|---|---|
187Q | ESPLKSKSQEE[P/Q]PKDT | 4 |
distal
|
177N | E[S/N]SPLKSKSQEEPKDT | 6 |
distal
|
189G | ESPLKSKSQEEPK[D/G]DT | 6 |
distal
|
187L | ESPLKSKSQEE[P/L]PKDT | 4 |
distal
|
184L | ESPLKSKS[Q/L]QEEPKDT | 1 |
network-rewiring
|
PTM Site: 188K
Affected site:
Position: 188
Residue: K
Type: ubiquitination
Impact:
proximalOther known mutations affecting this site
Mutation | In sequence | Distance | Impact |
---|---|---|---|
187Q | SKSQEE[P/Q]PKDTFEHDP | 1 |
proximal
|
191L | SKSQEEPKDT[F/L]FEHDP | 3 |
distal
|
189G | SKSQEEPK[D/G]DTFEHDP | 1 |
proximal
|
187L | SKSQEE[P/L]PKDTFEHDP | 1 |
proximal
|
184L | SKS[Q/L]QEEPKDTFEHDP | 4 |
distal
|
PTM Site: 190T
Affected site:
Position: 190
Residue: T
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
Mutation | In sequence | Distance | Impact |
---|---|---|---|
187Q | SQEE[P/Q]PKDTFEHDPSE | 3 |
distal
|
191L | SQEEPKDT[F/L]FEHDPSE | 1 |
network-rewiring
|
189G | SQEEPK[D/G]DTFEHDPSE | 1 |
proximal
|
187L | SQEE[P/L]PKDTFEHDPSE | 3 |
distal
|
184L | S[Q/L]QEEPKDTFEHDPSE | 6 |
distal
|
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