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Mutation:
LCA5 P92S
Summary
Clinical Information
Cancer types: (TCGA MC3)
SKCM
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
no data
Minor Allele Frequency: (ESP6500)
no data
Minor Allele Frequency: (1000 Genomes)
no data
PTM Site: 87S
Affected site:
Position: 87
Residue: S
Type: phosphorylation
Impact:
distalOther 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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