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Mutation:
LCA5 R84H
Summary
Isoform:
Position:
84
Ref:
R
Mutation:
H
PTM impact:
network-rewiring
PTM affected:
1
Kinases:
Clinical Information
Cancer types: (TCGA MC3)
PRAD
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: 87S
Affected site:
Position: 87
Residue: S
Type: phosphorylation
Best loss of PTM site:
AKT1 (probability p=0.989)
Site: 87S (phosphorylation)
Position in motif: -3
There are 5 other predicted
losses:
- PRKACA (p=0.95)
- PRKAA1 (p=0.905)
- PRKD1 (p=0.867)
- DAPK3 (p=0.852)
- RPS6KB1 (p=0.852)
Other known mutations affecting this site
Mutation | In sequence | Distance | Impact |
---|---|---|---|
84H | RVGF[R/H]RSQSLNREPLR | 3 |
network-rewiring
|
92S | RVGFRSQSLNRE[P/S]PLR | 5 |
distal
|
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