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Mutation:
HPCAL1 A53T
Summary
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
no data
Minor Allele Frequency: (ESP6500)
[0.0077]
Minor Allele Frequency: (1000 Genomes)
no data
PTM Site: 50K
Affected site:
Position: 50
Residue: K
Type: methylation, ubiquitination
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 53T | LTVDEFKKIY[A/T]ANFFP | 3 |
distal
|
| 46A | LTV[D/A]DEFKKIYANFFP | 4 |
distal
|
| 47K | LTVD[E/K]EFKKIYANFFP | 3 |
distal
|
PTM Site: 52Y
Affected site:
Position: 52
Residue: Y
Type: phosphorylation
Impact:
proximalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 53T | VDEFKKIY[A/T]ANFFPYG | 1 |
proximal
|
| 46A | V[D/A]DEFKKIYANFFPYG | 6 |
distal
|
| 47K | VD[E/K]EFKKIYANFFPYG | 5 |
distal
|
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