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Mutation:
KDM5A P41S
Summary
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
no data
Minor Allele Frequency: (ESP6500)
[0.0084]
Minor Allele Frequency: (1000 Genomes)
no data
PTM Site: 45K
Affected site:
Position: 45
Residue: K
Type: ubiquitination
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 43V | RIRPL[A/V]AEKTGICKIR | 2 |
proximal
|
| 41S | RIR[P/S]PLAEKTGICKIR | 4 |
distal
|
| 48M | RIRPLAEKTG[I/M]ICKIR | 3 |
distal
|
PTM Site: 46T
Affected site:
Position: 46
Residue: T
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 43V | IRPL[A/V]AEKTGICKIRP | 3 |
distal
|
| 41S | IR[P/S]PLAEKTGICKIRP | 5 |
distal
|
| 48M | IRPLAEKTG[I/M]ICKIRP | 2 |
proximal
|
| 52W | IRPLAEKTGICKI[R/W]RP | 6 |
distal
|
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