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Mutation:
BRCA1 G424R
Summary
Isoform:
Position:
424
Ref:
G
Mutation:
R
PTM impact:
network-rewiring
PTM affected:
4
Kinases:
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
Hereditary cancer-predisposing syndrome, Hereditary breast and ovarian cancer syndrome
Minor Allele Frequency: (ESP6500)
no data
Minor Allele Frequency: (1000 Genomes)
no data
PTM Site: 423S
Affected site:
Position: 423
Residue: S
Type: phosphorylation
Impact:
proximalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 429R | LNEVDEYSGSSEK[I/R]ID | 6 |
distal
|
| 429T | LNEVDEYSGSSEK[I/T]ID | 6 |
distal
|
| 424R | LNEVDEYS[G/R]GSSEKID | 1 |
proximal
|
| 424S | LNEVDEYS[G/S]GSSEKID | 1 |
proximal
|
| 422F | LNEVDE[Y/F]YSGSSEKID | 1 |
proximal
|
| 422C | LNEVDE[Y/C]YSGSSEKID | 1 |
proximal
|
| 422H | LNEVDE[Y/H]YSGSSEKID | 1 |
proximal
|
| 421G | LNEVD[E/G]EYSGSSEKID | 2 |
network-rewiring
|
| 421K | LNEVD[E/K]EYSGSSEKID | 2 |
network-rewiring
|
| 420G | LNEV[D/G]DEYSGSSEKID | 3 |
distal
|
| 420Y | LNEV[D/Y]DEYSGSSEKID | 3 |
distal
|
| 420H | LNEV[D/H]DEYSGSSEKID | 3 |
distal
|
| 420N | LNEV[D/N]DEYSGSSEKID | 3 |
distal
|
| 419G | LNE[V/G]VDEYSGSSEKID | 4 |
distal
|
| 419L | LNE[V/L]VDEYSGSSEKID | 4 |
distal
|
| 419I | LNE[V/I]VDEYSGSSEKID | 4 |
distal
|
| 418A | LN[E/A]EVDEYSGSSEKID | 5 |
distal
|
| 417K | L[N/K]NEVDEYSGSSEKID | 6 |
distal
|
| 417S | L[N/S]NEVDEYSGSSEKID | 6 |
distal
|
| 418D | LN[E/D]EVDEYSGSSEKID | 5 |
distal
|
PTM Site: 425S
Affected site:
Position: 425
Residue: S
Type: phosphorylation
Impact:
proximalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 431I | EVDEYSGSSEKID[L/I]LL | 6 |
distal
|
| 430G | EVDEYSGSSEKI[D/G]DLL | 5 |
distal
|
| 429R | EVDEYSGSSEK[I/R]IDLL | 4 |
distal
|
| 429T | EVDEYSGSSEK[I/T]IDLL | 4 |
distal
|
| 424R | EVDEYS[G/R]GSSEKIDLL | 1 |
proximal
|
| 424S | EVDEYS[G/S]GSSEKIDLL | 1 |
proximal
|
| 422F | EVDE[Y/F]YSGSSEKIDLL | 3 |
distal
|
| 422C | EVDE[Y/C]YSGSSEKIDLL | 3 |
distal
|
| 422H | EVDE[Y/H]YSGSSEKIDLL | 3 |
distal
|
| 421G | EVD[E/G]EYSGSSEKIDLL | 4 |
distal
|
| 421K | EVD[E/K]EYSGSSEKIDLL | 4 |
distal
|
| 420G | EV[D/G]DEYSGSSEKIDLL | 5 |
distal
|
| 420Y | EV[D/Y]DEYSGSSEKIDLL | 5 |
distal
|
| 420H | EV[D/H]DEYSGSSEKIDLL | 5 |
distal
|
| 420N | EV[D/N]DEYSGSSEKIDLL | 5 |
distal
|
| 419G | E[V/G]VDEYSGSSEKIDLL | 6 |
distal
|
| 419L | E[V/L]VDEYSGSSEKIDLL | 6 |
distal
|
| 419I | E[V/I]VDEYSGSSEKIDLL | 6 |
distal
|
PTM Site: 426S
Affected site:
Position: 426
Residue: S
Type: phosphorylation
Best gain of PTM site:
PRKCD (probability p=0.94)
Site: 426S (phosphorylation)
Position in motif: -2
There are 2 other predicted
gains:
- PRKACA (p=0.927)
- ROCK1 (p=0.878)
Other known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 432P | VDEYSGSSEKIDL[L/P]LA | 6 |
distal
|
| 432M | VDEYSGSSEKIDL[L/M]LA | 6 |
distal
|
| 431I | VDEYSGSSEKID[L/I]LLA | 5 |
distal
|
| 430G | VDEYSGSSEKI[D/G]DLLA | 4 |
distal
|
| 429R | VDEYSGSSEK[I/R]IDLLA | 3 |
distal
|
| 429T | VDEYSGSSEK[I/T]IDLLA | 3 |
distal
|
| 424R | VDEYS[G/R]GSSEKIDLLA | 2 |
network-rewiring
|
| 424S | VDEYS[G/S]GSSEKIDLLA | 2 |
proximal
|
| 422F | VDE[Y/F]YSGSSEKIDLLA | 4 |
distal
|
| 422C | VDE[Y/C]YSGSSEKIDLLA | 4 |
distal
|
| 422H | VDE[Y/H]YSGSSEKIDLLA | 4 |
distal
|
| 421G | VD[E/G]EYSGSSEKIDLLA | 5 |
distal
|
| 421K | VD[E/K]EYSGSSEKIDLLA | 5 |
distal
|
| 420G | V[D/G]DEYSGSSEKIDLLA | 6 |
distal
|
| 420Y | V[D/Y]DEYSGSSEKIDLLA | 6 |
distal
|
| 420H | V[D/H]DEYSGSSEKIDLLA | 6 |
distal
|
| 420N | V[D/N]DEYSGSSEKIDLLA | 6 |
distal
|
PTM Site: 428K
Affected site:
Position: 428
Residue: K
Type: ubiquitination
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 434N | EYSGSSEKIDLLA[S/N]SD | 6 |
distal
|
| 434G | EYSGSSEKIDLLA[S/G]SD | 6 |
distal
|
| 434R | EYSGSSEKIDLLA[S/R]SD | 6 |
distal
|
| 432P | EYSGSSEKIDL[L/P]LASD | 4 |
distal
|
| 432M | EYSGSSEKIDL[L/M]LASD | 4 |
distal
|
| 431I | EYSGSSEKID[L/I]LLASD | 3 |
distal
|
| 430G | EYSGSSEKI[D/G]DLLASD | 2 |
proximal
|
| 429R | EYSGSSEK[I/R]IDLLASD | 1 |
proximal
|
| 429T | EYSGSSEK[I/T]IDLLASD | 1 |
proximal
|
| 424R | EYS[G/R]GSSEKIDLLASD | 4 |
distal
|
| 424S | EYS[G/S]GSSEKIDLLASD | 4 |
distal
|
| 422F | E[Y/F]YSGSSEKIDLLASD | 6 |
distal
|
| 422C | E[Y/C]YSGSSEKIDLLASD | 6 |
distal
|
| 422H | E[Y/H]YSGSSEKIDLLASD | 6 |
distal
|
External references
dbSNP:
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