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Mutation:
AGL G770R
Summary
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
Kidney-RCC
Disease Annotations: (ClinVar)
Glycogen storage disease type III
Minor Allele Frequency: (ESP6500)
[0.0154]
Minor Allele Frequency: (1000 Genomes)
no data
PTM Site: 771K
Affected site:
Position: 771
Residue: K
Type: ubiquitination
Impact:
proximalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 768N | PQMC[I/N]IPGKIEEVVLE | 3 |
distal
|
| 770R | PQMCIP[G/R]GKIEEVVLE | 1 |
proximal
|
| 772L | PQMCIPGK[I/L]IEEVVLE | 1 |
proximal
|
| 767Y | PQM[C/Y]CIPGKIEEVVLE | 4 |
distal
|
External references
dbSNP:
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