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Mutation:
STXBP2 R552G
Summary
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
Hemophagocytic lymphohistiocytosis, familial, 5
Minor Allele Frequency: (ESP6500)
[0.8931]
Minor Allele Frequency: (1000 Genomes)
[1.21805]
PTM Site: 557K
Affected site:
Position: 557
Residue: K
Type: ubiquitination
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 552G | VT[R/G]RATEGKWEVLIGS | 5 |
distal
|
| 555K | VTRAT[E/K]EGKWEVLIGS | 2 |
proximal
|
| 556V | VTRATE[G/V]GKWEVLIGS | 1 |
proximal
|
| 558R | VTRATEGK[W/R]WEVLIGS | 1 |
proximal
|
| 558S | VTRATEGK[W/S]WEVLIGS | 1 |
proximal
|
External references
dbSNP:
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