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Mutation:
RBM20 R634Q
Summary
Isoform:
Position:
634
Ref:
R
Mutation:
Q
PTM impact:
network-rewiring
PTM affected:
2
Kinases:
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
Dilated cardiomyopathy 1DD, mitochondrial
Minor Allele Frequency: (ESP6500)
no data
Minor Allele Frequency: (1000 Genomes)
no data
PTM Site: 635S
Affected site:
Position: 635
Residue: S
Type: phosphorylation
Impact:
proximalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 629V | Y[G/V]GPERPRSRSPVSRS | 6 |
distal
|
| 633L | YGPER[P/L]PRSRSPVSRS | 2 |
proximal
|
| 634W | YGPERP[R/W]RSRSPVSRS | 1 |
proximal
|
| 634Q | YGPERP[R/Q]RSRSPVSRS | 1 |
proximal
|
| 635P | YGPERPR[S/P]SRSPVSRS | 0 |
direct
|
| 635Y | YGPERPR[S/Y]SRSPVSRS | 0 |
direct
|
| 635C | YGPERPR[S/C]SRSPVSRS | 0 |
direct
|
| 636S | YGPERPRS[R/S]RSPVSRS | 1 |
proximal
|
| 636C | YGPERPRS[R/C]RSPVSRS | 1 |
proximal
|
| 636H | YGPERPRS[R/H]RSPVSRS | 1 |
proximal
|
| 637G | YGPERPRSR[S/G]SPVSRS | 2 |
proximal
|
| 638Q | YGPERPRSRS[P/Q]PVSRS | 3 |
distal
|
| 638L | YGPERPRSRS[P/L]PVSRS | 3 |
distal
|
| 640R | YGPERPRSRSPV[S/R]SRS | 5 |
distal
|
| 641Q | YGPERPRSRSPVS[R/Q]RS | 6 |
distal
|
PTM Site: 637S
Affected site:
Position: 637
Residue: S
Type: phosphorylation
Best loss of PTM site:
CHEK1 (probability p=0.987)
Site: 637S (phosphorylation)
Position in motif: -3
There are 11 other predicted
losses:
- AKT2 (p=0.984)
- RPS6KA1 (p=0.981)
- PAK1 (p=0.978)
- CHEK2 (p=0.939)
- PRKAA1 (p=0.91)
- PRKACA (p=0.897)
- CAMK4 (p=0.881)
- PRKCD (p=0.878)
- PRKD1 (p=0.876)
- PRKG1 (p=0.871)
- CAMK2A (p=0.861)
Other known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 633L | PER[P/L]PRSRSPVSRSLS | 4 |
distal
|
| 634W | PERP[R/W]RSRSPVSRSLS | 3 |
network-rewiring
|
| 634Q | PERP[R/Q]RSRSPVSRSLS | 3 |
network-rewiring
|
| 635P | PERPR[S/P]SRSPVSRSLS | 2 |
proximal
|
| 635Y | PERPR[S/Y]SRSPVSRSLS | 2 |
proximal
|
| 635C | PERPR[S/C]SRSPVSRSLS | 2 |
proximal
|
| 636S | PERPRS[R/S]RSPVSRSLS | 1 |
proximal
|
| 636C | PERPRS[R/C]RSPVSRSLS | 1 |
proximal
|
| 636H | PERPRS[R/H]RSPVSRSLS | 1 |
proximal
|
| 637G | PERPRSR[S/G]SPVSRSLS | 0 |
direct
|
| 638Q | PERPRSRS[P/Q]PVSRSLS | 1 |
network-rewiring
|
| 638L | PERPRSRS[P/L]PVSRSLS | 1 |
network-rewiring
|
| 640R | PERPRSRSPV[S/R]SRSLS | 3 |
distal
|
| 641Q | PERPRSRSPVS[R/Q]RSLS | 4 |
distal
|
External references
dbSNP:
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