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Mutation:
FOXP3 S146I
Summary
Isoform:
Position:
146
Ref:
S
Mutation:
I
PTM impact:
proximal
PTM affected:
1
Kinases:
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
Insulin-dependent diabetes mellitus secretory diarrhea syndrome
Minor Allele Frequency: (ESP6500)
no data
Minor Allele Frequency: (1000 Genomes)
no data
PTM Site: 144K
Affected site:
Position: 144
Residue: K
Type: acetylation
Impact:
proximalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 149L | PNPSAPRKDSTL[S/L]SAV | 5 |
distal
|
| 146I | PNPSAPRKD[S/I]STLSAV | 2 |
proximal
|
| 139R | PN[P/R]PSAPRKDSTLSAV | 5 |
distal
|
| 148I | PNPSAPRKDST[L/I]LSAV | 4 |
distal
|
| 143K | PNPSAP[R/K]RKDSTLSAV | 1 |
proximal
|
External references
dbSNP:
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