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Mutation:
MBD1 R355C
Summary
Isoform:
Position:
355
Ref:
R
Mutation:
C
PTM impact:
proximal
PTM affected:
2
Kinases:
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
no data
Minor Allele Frequency: (ESP6500)
no data
Minor Allele Frequency: (1000 Genomes)
[0.0199681]
PTM Site: 349S
Affected site:
Position: 349
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 351A | ESEDGAGSP[P/A]PPYRRR | 2 |
proximal
|
| 355H | ESEDGAGSPPPYR[R/H]RR | 6 |
distal
|
| 355C | ESEDGAGSPPPYR[R/C]RR | 6 |
distal
|
| 354H | ESEDGAGSPPPY[R/H]RRR | 5 |
distal
|
PTM Site: 353Y
Affected site:
Position: 353
Residue: Y
Type: phosphorylation
Impact:
proximalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 356Q | GAGSPPPYRR[R/Q]RKRPS | 3 |
distal
|
| 351A | GAGSP[P/A]PPYRRRKRPS | 2 |
proximal
|
| 355H | GAGSPPPYR[R/H]RRKRPS | 2 |
proximal
|
| 355C | GAGSPPPYR[R/C]RRKRPS | 2 |
proximal
|
| 354H | GAGSPPPY[R/H]RRRKRPS | 1 |
proximal
|
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