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Mutation:
STIM1 N291S
Summary
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
Stormorken syndrome
Minor Allele Frequency: (ESP6500)
[0.0231]
Minor Allele Frequency: (1000 Genomes)
[0.0199681]
PTM Site: 285K
Affected site:
Position: 285
Residue: K
Type: ubiquitination
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 287C | EKVHLEKKL[R/C]RDEINL | 2 |
proximal
|
| 287H | EKVHLEKKL[R/H]RDEINL | 2 |
proximal
|
| 291S | EKVHLEKKLRDEI[N/S]NL | 6 |
distal
|
| 280L | EK[V/L]VHLEKKLRDEINL | 5 |
distal
|
PTM Site: 294K
Affected site:
Position: 294
Residue: K
Type: ubiquitination
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 291S | RDEI[N/S]NLAKQEAQRLK | 3 |
distal
|
| 299W | RDEINLAKQEAQ[R/W]RLK | 5 |
distal
|
| 299L | RDEINLAKQEAQ[R/L]RLK | 5 |
distal
|
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