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Mutation:
PCDH19 D993N
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: 998S
Affected site:
Position: 998
Residue: S
Type: phosphorylation
Impact:
distalOther 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
|
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