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Mutation:
MEF2C H388P
Summary
Isoform:
Position:
388
Ref:
H
Mutation:
P
PTM impact:
proximal
PTM affected:
1
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: 389S
Affected site:
Position: 389
Residue: S
Type: phosphorylation
Impact:
proximalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 388P | DHRNEF[H/P]HSPIGLTRP | 1 |
proximal
|
| 395K | DHRNEFHSPIGLT[R/K]RP | 6 |
distal
|
| 384G | DH[R/G]RNEFHSPIGLTRP | 5 |
distal
|
External references
dbSNP:
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