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Mutation:
ACAP2 E591K
Summary
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
no data
Minor Allele Frequency: (ESP6500)
[0.0538]
Minor Allele Frequency: (1000 Genomes)
[0.059904200000000005]
PTM Site: 584S
Affected site:
Position: 584
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 579M | PS[T/M]TVSANSLYEPEGE | 5 |
distal
|
| 583S | PSTVSA[N/S]NSLYEPEGE | 1 |
proximal
|
| 580L | PST[V/L]VSANSLYEPEGE | 4 |
distal
|
PTM Site: 586Y
Affected site:
Position: 586
Residue: Y
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 591K | TVSANSLYEPEG[E/K]ERQ | 5 |
distal
|
| 583S | TVSA[N/S]NSLYEPEGERQ | 3 |
distal
|
| 580L | T[V/L]VSANSLYEPEGERQ | 6 |
distal
|
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