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Mutation:
DMTN P94Q
Summary
Isoform:
Position:
94
Ref:
P
Mutation:
Q
PTM impact:
proximal
PTM affected:
4
Kinases:
MAPK1,
MAPK1
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: 90S
Affected site:
Position: 90
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 92F | ERSLSPKST[S/F]SPPPSP | 2 |
proximal
|
| 84H | E[R/H]RSLSPKSTSPPPSP | 6 |
distal
|
| 94Q | ERSLSPKSTSP[P/Q]PPSP | 4 |
distal
|
| 92P | ERSLSPKST[S/P]SPPPSP | 2 |
proximal
|
| 85L | ER[S/L]SLSPKSTSPPPSP | 5 |
distal
|
PTM Site: 91T
Affected site:
Position: 91
Residue: T
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 92F | RSLSPKST[S/F]SPPPSPE | 1 |
network-rewiring
|
| 94Q | RSLSPKSTSP[P/Q]PPSPE | 3 |
distal
|
| 92P | RSLSPKST[S/P]SPPPSPE | 1 |
network-rewiring
|
| 85L | R[S/L]SLSPKSTSPPPSPE | 6 |
distal
|
PTM Site: 92S
Affected site:
Position: 92
Residue: S
Type: phosphorylation
Impact:
proximalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 92F | SLSPKST[S/F]SPPPSPEV | 0 |
direct
|
| 94Q | SLSPKSTSP[P/Q]PPSPEV | 2 |
proximal
|
| 92P | SLSPKST[S/P]SPPPSPEV | 0 |
direct
|
PTM Site: 96S
Affected site:
Position: 96
Residue: S
Type: phosphorylation
Impact:
proximalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 92F | KST[S/F]SPPPSPEVWADS | 4 |
distal
|
| 94Q | KSTSP[P/Q]PPSPEVWADS | 2 |
proximal
|
| 92P | KST[S/P]SPPPSPEVWADS | 4 |
distal
|
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