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Mutation:
TPP1 G458D
Summary
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
Neuronal ceroid lipofuscinosis
Minor Allele Frequency: (ESP6500)
no data
Minor Allele Frequency: (1000 Genomes)
no data
PTM Site: 459Y
Affected site:
Position: 459
Residue: Y
Type: phosphorylation
Impact:
proximalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 458D | VAALSD[G/D]GYWVVSNRV | 1 |
proximal
|
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