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Mutation:
COPA K170R
Summary
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
Autoimmune interstitial lung, joint, and kidney disease
Minor Allele Frequency: (ESP6500)
no data
Minor Allele Frequency: (1000 Genomes)
no data
PTM Site: 169K
Affected site:
Position: 169
Residue: K
Type: ubiquitination
Impact:
proximalOther known mutations affecting this site
Mutation | In sequence | Distance | Impact |
---|---|---|---|
170R | WDISGLRK[K/R]KNLSPGA | 1 |
proximal
|
PTM Site: 170K
Affected site:
Position: 170
Residue: K
Type: ubiquitination
Impact:
directOther known mutations affecting this site
Mutation | In sequence | Distance | Impact |
---|---|---|---|
170R | DISGLRK[K/R]KNLSPGAV | 0 |
direct
|
176V | DISGLRKKNLSPG[A/V]AV | 6 |
distal
|
PTM Site: 173S
Affected site:
Position: 173
Residue: S
Type: phosphorylation (SARS-CoV-2), phosphorylation
Best gain of PTM site:
RPS6KA1 (probability p=0.97)
Site: 173S (phosphorylation, phosphorylation (SARS-CoV-2))
Position in motif: -3
There are 3 other predicted
gains:
- PRKACA (p=0.958)
- CAMK2A (p=0.877)
- PRKD1 (p=0.867)
Other known mutations affecting this site
Mutation | In sequence | Distance | Impact |
---|---|---|---|
170R | GLRK[K/R]KNLSPGAVESD | 3 |
network-rewiring
|
176V | GLRKKNLSPG[A/V]AVESD | 3 |
distal
|
External references
dbSNP:
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