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Mutation:
MEF2C V406A
Summary
Isoform:
Position:
406
Ref:
V
Mutation:
A
PTM impact:
proximal
PTM affected:
2
Kinases:
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations
Minor Allele Frequency: (ESP6500)
no data
Minor Allele Frequency: (1000 Genomes)
no data
PTM Site: 403S
Affected site:
Position: 403
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 406A | PSPDERESPS[V/A]VKRMR | 3 |
distal
|
| 398A | PS[P/A]PDERESPSVKRMR | 5 |
distal
|
| 400K | PSPD[E/K]ERESPSVKRMR | 3 |
network-rewiring
|
| 401T | PSPDE[R/T]RESPSVKRMR | 2 |
network-rewiring
|
| 401K | PSPDE[R/K]RESPSVKRMR | 2 |
network-rewiring
|
PTM Site: 405S
Affected site:
Position: 405
Residue: S
Type: phosphorylation
Impact:
proximalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 406A | PDERESPS[V/A]VKRMRLS | 1 |
proximal
|
| 400K | PD[E/K]ERESPSVKRMRLS | 5 |
distal
|
| 401T | PDE[R/T]RESPSVKRMRLS | 4 |
distal
|
| 401K | PDE[R/K]RESPSVKRMRLS | 4 |
distal
|
External references
dbSNP:
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