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Mutation:
RBM20 S637G
Summary
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
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
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Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 635P | YGPERPR[S/P]SRSPVSRS | 0 |
direct
|
| 635Y | YGPERPR[S/Y]SRSPVSRS | 0 |
direct
|
| 635C | YGPERPR[S/C]SRSPVSRS | 0 |
direct
|
| 634W | YGPERP[R/W]RSRSPVSRS | 1 |
proximal
|
| 634Q | YGPERP[R/Q]RSRSPVSRS | 1 |
proximal
|
PTM Site: 637S
Affected site:
Position: 637
Residue: S
Type: phosphorylation
Impact:
directOther known mutations affecting this site
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Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 637G | PERPRSR[S/G]SPVSRSLS | 0 |
direct
|
| 636S | PERPRS[R/S]RSPVSRSLS | 1 |
proximal
|
| 636C | PERPRS[R/C]RSPVSRSLS | 1 |
proximal
|
| 636H | PERPRS[R/H]RSPVSRSLS | 1 |
proximal
|
| 638Q | PERPRSRS[P/Q]PVSRSLS | 1 |
network-rewiring
|
PTM Site: 642S
Affected site:
Position: 642
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
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Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 641Q | SRSPVS[R/Q]RSLSPRSHT | 1 |
proximal
|
| 640R | SRSPV[S/R]SRSLSPRSHT | 2 |
network-rewiring
|
| 638Q | SRS[P/Q]PVSRSLSPRSHT | 4 |
distal
|
| 638L | SRS[P/L]PVSRSLSPRSHT | 4 |
distal
|
| 637G | SR[S/G]SPVSRSLSPRSHT | 5 |
distal
|
PTM Site: 644S
Affected site:
Position: 644
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
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Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 641Q | SPVS[R/Q]RSLSPRSHTPS | 3 |
network-rewiring
|
| 640R | SPV[S/R]SRSLSPRSHTPS | 4 |
distal
|
| 638Q | S[P/Q]PVSRSLSPRSHTPS | 6 |
distal
|
| 638L | S[P/L]PVSRSLSPRSHTPS | 6 |
distal
|
Showing 1 to 4 of 4 rows
External references
dbSNP:
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