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Mutation:
DEFA3 R79H
Summary
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
no data
Minor Allele Frequency: (ESP6500)
no data
Minor Allele Frequency: (1000 Genomes)
[0.0199681]
PTM Site: 80Y
Affected site:
Position: 80
Residue: Y
Type: phosphorylation
Impact:
proximalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 79H | CIAGER[R/H]RYGTCIYQG | 1 |
proximal
|
| 78H | CIAGE[R/H]RRYGTCIYQG | 2 |
proximal
|
| 76E | CIA[G/E]GERRYGTCIYQG | 4 |
distal
|
| 75V | CI[A/V]AGERRYGTCIYQG | 5 |
distal
|
PTM Site: 85Y
Affected site:
Position: 85
Residue: Y
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 79H | R[R/H]RYGTCIYQGRLWAF | 6 |
distal
|
| 90C | RRYGTCIYQGRL[W/C]WAF | 5 |
distal
|
| 87R | RRYGTCIYQ[G/R]GRLWAF | 2 |
proximal
|
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