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Mutation:
ALG2 M386V
Summary
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
ALG2-CDG
Minor Allele Frequency: (ESP6500)
no data
Minor Allele Frequency: (1000 Genomes)
no data
PTM Site: 381S
Affected site:
Position: 381
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 386V | EKFIREPSLKAT[M/V]MGL | 5 |
distal
|
| 384T | EKFIREPSLK[A/T]ATMGL | 3 |
distal
|
| 378C | EKFI[R/C]REPSLKATMGL | 3 |
distal
|
| 378H | EKFI[R/H]REPSLKATMGL | 3 |
distal
|
| 381F | EKFIREP[S/F]SLKATMGL | 0 |
direct
|
PTM Site: 383K
Affected site:
Position: 383
Residue: K
Type: methylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 386V | FIREPSLKAT[M/V]MGLAG | 3 |
distal
|
| 384T | FIREPSLK[A/T]ATMGLAG | 1 |
proximal
|
| 378C | FI[R/C]REPSLKATMGLAG | 5 |
distal
|
| 378H | FI[R/H]REPSLKATMGLAG | 5 |
distal
|
| 381F | FIREP[S/F]SLKATMGLAG | 2 |
proximal
|
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