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Mutation:
DGKD T250A
Summary
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: 254K
Affected site:
Position: 254
Residue: K
Type: ubiquitination
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 260M | AKCTVCDKTCGSV[L/M]LR | 6 |
distal
|
| 250A | AKC[T/A]TVCDKTCGSVLR | 4 |
distal
|
| 258I | AKCTVCDKTCG[S/I]SVLR | 4 |
distal
|
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