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Mutation:
DMTN R82H
Summary
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
no data
Minor Allele Frequency: (ESP6500)
[0.0077]
Minor Allele Frequency: (1000 Genomes)
no data
PTM Site: 81S
Affected site:
Position: 81
Residue: S
Type: phosphorylation
Impact:
proximalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 82H | EHVELPRS[R/H]RERSLSP | 1 |
proximal
|
| 83Q | EHVELPRSR[E/Q]ERSLSP | 2 |
proximal
|
| 76M | EH[V/M]VELPRSRERSLSP | 5 |
distal
|
| 84H | EHVELPRSRE[R/H]RSLSP | 3 |
distal
|
| 85L | EHVELPRSRER[S/L]SLSP | 4 |
network-rewiring
|
| 80C | EHVELP[R/C]RSRERSLSP | 1 |
proximal
|
PTM Site: 85S
Affected site:
Position: 85
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 82H | LPRS[R/H]RERSLSPKSTS | 3 |
distal
|
| 83Q | LPRSR[E/Q]ERSLSPKSTS | 2 |
proximal
|
| 84H | LPRSRE[R/H]RSLSPKSTS | 1 |
proximal
|
| 85L | LPRSRER[S/L]SLSPKSTS | 0 |
direct
|
| 80C | LP[R/C]RSRERSLSPKSTS | 5 |
distal
|
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