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Mutation:
BSG R54H
Summary
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
no data
Minor Allele Frequency: (ESP6500)
[0.0077]
Minor Allele Frequency: (1000 Genomes)
no data
PTM Site: 57K
Affected site:
Position: 57
Residue: K
Type: ubiquitination
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 54H | VTGH[R/H]RWLKGGVVLKE | 3 |
distal
|
| 58R | VTGHRWLK[G/R]GGVVLKE | 1 |
proximal
|
| 51S | V[T/S]TGHRWLKGGVVLKE | 6 |
distal
|
| 53R | VTG[H/R]HRWLKGGVVLKE | 4 |
distal
|
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