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Mutation:
RBM20 R636S
Summary
Isoform:
Position:
636
Ref:
R
Mutation:
S
PTM impact:
proximal
PTM affected:
3
Kinases:
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
Primary dilated cardiomyopathy, Dilated cardiomyopathy 1DD
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
Impact:
proximalOther 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
|
PTM Site: 642S
Affected site:
Position: 642
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 636S | S[R/S]RSPVSRSLSPRSHT | 6 |
distal
|
| 636C | S[R/C]RSPVSRSLSPRSHT | 6 |
distal
|
| 636H | S[R/H]RSPVSRSLSPRSHT | 6 |
distal
|
| 637G | SR[S/G]SPVSRSLSPRSHT | 5 |
distal
|
| 638Q | SRS[P/Q]PVSRSLSPRSHT | 4 |
distal
|
| 638L | SRS[P/L]PVSRSLSPRSHT | 4 |
distal
|
| 640R | SRSPV[S/R]SRSLSPRSHT | 2 |
network-rewiring
|
| 641Q | SRSPVS[R/Q]RSLSPRSHT | 1 |
proximal
|
External references
dbSNP:
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