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Mutation:
OCRL E125D
Summary
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
Lowe syndrome, History of neurodevelopmental disorder
Minor Allele Frequency: (ESP6500)
no data
Minor Allele Frequency: (1000 Genomes)
[0.13244999999999998]
PTM Site: 127K
Affected site:
Position: 127
Residue: K
Type: ubiquitination
Impact:
proximalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 125D | QLLVP[E/D]EQKDSSSWYQ | 2 |
proximal
|
| 122H | QL[L/H]LVPEQKDSSSWYQ | 5 |
distal
|
External references
dbSNP:
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