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Mutation:
STXBP2 K578R
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)
no data
Minor Allele Frequency: (1000 Genomes)
no data
PTM Site: 578K
Affected site:
Position: 578
Residue: K
Type: ubiquitination
Impact:
directOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 572C | T[R/C]RFLDDLKALDKKLE | 6 |
distal
|
| 578R | TRFLDDL[K/R]KALDKKLE | 0 |
direct
|
PTM Site: 583K
Affected site:
Position: 583
Residue: K
Type: ubiquitination
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 578R | DL[K/R]KALDKKLEDIALP | 5 |
distal
|
| 588D | DLKALDKKLEDI[A/D]ALP | 5 |
distal
|
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