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Mutation:
BCLAF1 I232V
Summary
Isoform:
Position:
232
Ref:
I
Mutation:
V
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)
[0.0077]
Minor Allele Frequency: (1000 Genomes)
no data
PTM Site: 225S
Affected site:
Position: 225
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 228R | AYDNSPRSPH[S/R]SPSPI | 3 |
network-rewiring
|
| 228N | AYDNSPRSPH[S/N]SPSPI | 3 |
network-rewiring
|
| 220E | AY[D/E]DNSPRSPHSPSPI | 5 |
distal
|
| 220H | AY[D/H]DNSPRSPHSPSPI | 5 |
distal
|
| 224I | AYDNSP[R/I]RSPHSPSPI | 1 |
proximal
|
| 228I | AYDNSPRSPH[S/I]SPSPI | 3 |
network-rewiring
|
| 230L | AYDNSPRSPHSP[S/L]SPI | 5 |
distal
|
| 221I | AYD[N/I]NSPRSPHSPSPI | 4 |
distal
|
PTM Site: 228S
Affected site:
Position: 228
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 232V | NSPRSPHSPSP[I/V]IATP | 4 |
distal
|
| 228R | NSPRSPH[S/R]SPSPIATP | 0 |
direct
|
| 228N | NSPRSPH[S/N]SPSPIATP | 0 |
direct
|
| 224I | NSP[R/I]RSPHSPSPIATP | 4 |
distal
|
| 228I | NSPRSPH[S/I]SPSPIATP | 0 |
direct
|
| 230L | NSPRSPHSP[S/L]SPIATP | 2 |
proximal
|
PTM Site: 230S
Affected site:
Position: 230
Residue: S
Type: phosphorylation
Impact:
proximalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 232V | PRSPHSPSP[I/V]IATPPS | 2 |
proximal
|
| 228R | PRSPH[S/R]SPSPIATPPS | 2 |
network-rewiring
|
| 228N | PRSPH[S/N]SPSPIATPPS | 2 |
proximal
|
| 224I | P[R/I]RSPHSPSPIATPPS | 6 |
distal
|
| 236H | PRSPHSPSPIATP[P/H]PS | 6 |
distal
|
| 228I | PRSPH[S/I]SPSPIATPPS | 2 |
proximal
|
| 230L | PRSPHSP[S/L]SPIATPPS | 0 |
direct
|
| 236L | PRSPHSPSPIATP[P/L]PS | 6 |
distal
|
| 235L | PRSPHSPSPIAT[P/L]PPS | 5 |
distal
|
PTM Site: 234T
Affected site:
Position: 234
Residue: T
Type: phosphorylation
Impact:
proximalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 232V | HSPSP[I/V]IATPPSQSSS | 2 |
proximal
|
| 228R | H[S/R]SPSPIATPPSQSSS | 6 |
distal
|
| 228N | H[S/N]SPSPIATPPSQSSS | 6 |
distal
|
| 236H | HSPSPIATP[P/H]PSQSSS | 2 |
proximal
|
| 228I | H[S/I]SPSPIATPPSQSSS | 6 |
distal
|
| 240P | HSPSPIATPPSQS[S/P]SS | 6 |
distal
|
| 237R | HSPSPIATPP[S/R]SQSSS | 3 |
network-rewiring
|
| 230L | HSP[S/L]SPIATPPSQSSS | 4 |
distal
|
| 236L | HSPSPIATP[P/L]PSQSSS | 2 |
proximal
|
| 235L | HSPSPIAT[P/L]PPSQSSS | 1 |
network-rewiring
|
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