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Mutation:
GTSE1 P203L
Summary
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)
[0.0399361]
PTM Site: 201R
Affected site:
Position: 201
Residue: R
Type: methylation
Impact:
proximalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 200A | GAQARL[T/A]TRAPGPPHS | 1 |
proximal
|
| 205L | GAQARLTRAPG[P/L]PPHS | 4 |
distal
|
| 201W | GAQARLT[R/W]RAPGPPHS | 0 |
direct
|
| 203L | GAQARLTRA[P/L]PGPPHS | 2 |
proximal
|
| 197S | GAQ[A/S]ARLTRAPGPPHS | 4 |
distal
|
| 198S | GAQA[R/S]RLTRAPGPPHS | 3 |
distal
|
PTM Site: 208S
Affected site:
Position: 208
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 205L | RAPG[P/L]PPHSAHALPRE | 3 |
distal
|
| 203L | RA[P/L]PGPPHSAHALPRE | 5 |
distal
|
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