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Mutation:
PCDH19 I996V
Summary
Isoform:
Position:
996
Ref:
I
Mutation:
V
PTM impact:
proximal
PTM affected:
1
Kinases:
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
Early infantile epileptic encephalopathy 9
Minor Allele Frequency: (ESP6500)
no data
Minor Allele Frequency: (1000 Genomes)
no data
PTM Site: 998S
Affected site:
Position: 998
Residue: S
Type: phosphorylation
Impact:
proximalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 996F | TVDVT[I/F]ICSPKVNSVI | 2 |
proximal
|
| 996V | TVDVT[I/V]ICSPKVNSVI | 2 |
proximal
|
| 993N | TV[D/N]DVTICSPKVNSVI | 5 |
distal
|
| 997F | TVDVTI[C/F]CSPKVNSVI | 1 |
proximal
|
| 997S | TVDVTI[C/S]CSPKVNSVI | 1 |
proximal
|
| 998N | TVDVTIC[S/N]SPKVNSVI | 0 |
direct
|
External references
dbSNP:
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