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Mutation:
BCLAF1 R224I
Summary
Isoform:
Position:
224
Ref:
R
Mutation:
I
PTM impact:
network-rewiring
PTM affected:
6
Kinases:
Clinical Information
Cancer types: (TCGA MC3)
LUAD
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
no data
Minor Allele Frequency: (ESP6500)
no data
Minor Allele Frequency: (1000 Genomes)
no data
PTM Site: 217S
Affected site:
Position: 217
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 214S | GDIW[P/S]PGLSAYDNSPR | 3 |
distal
|
| 220E | GDIWPGLSAY[D/E]DNSPR | 3 |
distal
|
| 220H | GDIWPGLSAY[D/H]DNSPR | 3 |
distal
|
| 221I | GDIWPGLSAYD[N/I]NSPR | 4 |
distal
|
PTM Site: 219Y
Affected site:
Position: 219
Residue: Y
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 214S | IW[P/S]PGLSAYDNSPRSP | 5 |
distal
|
| 220E | IWPGLSAY[D/E]DNSPRSP | 1 |
proximal
|
| 220H | IWPGLSAY[D/H]DNSPRSP | 1 |
proximal
|
| 224I | IWPGLSAYDNSP[R/I]RSP | 5 |
distal
|
| 221I | IWPGLSAYD[N/I]NSPRSP | 2 |
proximal
|
PTM Site: 222S
Affected site:
Position: 222
Residue: S
Type: phosphorylation
Only loss of PTM site:
PRKCB (probability p=0.864)
Site: 222S (phosphorylation)
Position in motif: 2
Other known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 228R | GLSAYDNSPRSPH[S/R]SP | 6 |
distal
|
| 228N | GLSAYDNSPRSPH[S/N]SP | 6 |
distal
|
| 220E | GLSAY[D/E]DNSPRSPHSP | 2 |
proximal
|
| 220H | GLSAY[D/H]DNSPRSPHSP | 2 |
proximal
|
| 224I | GLSAYDNSP[R/I]RSPHSP | 2 |
network-rewiring
|
| 228I | GLSAYDNSPRSPH[S/I]SP | 6 |
distal
|
| 221I | GLSAYD[N/I]NSPRSPHSP | 1 |
proximal
|
PTM Site: 225S
Affected site:
Position: 225
Residue: S
Type: phosphorylation
Impact:
proximalOther 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:
distalOther 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
|
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