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Mutation:
STIM1 V280L
Summary
Isoform:
Position:
280
Ref:
V
Mutation:
L
PTM impact:
proximal
PTM affected:
2
Kinases:
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: 279K
Affected site:
Position: 279
Residue: K
Type: ubiquitination
Impact:
proximalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 273H | H[R/H]RTVEVEKVHLEKKL | 6 |
distal
|
| 280L | HRTVEVEK[V/L]VHLEKKL | 1 |
proximal
|
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
|
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