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Mutation:
GFAP E223Q
Summary
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
Global developmental delay
Minor Allele Frequency: (ESP6500)
[0.0154]
Minor Allele Frequency: (1000 Genomes)
[0.0399361]
PTM Site: 228K
Affected site:
Position: 228
Residue: K
Type: acetylation
Impact:
distalOther known mutations affecting this site
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Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 226M | HVELD[V/M]VAKPDLTAAL | 2 |
proximal
|
| 231H | HVELDVAKPD[L/H]LTAAL | 3 |
distal
|
| 232I | HVELDVAKPDL[T/I]TAAL | 4 |
distal
|
| 224P | HVE[L/P]LDVAKPDLTAAL | 4 |
distal
|
| 223Q | HV[E/Q]ELDVAKPDLTAAL | 5 |
distal
|
External references
dbSNP:
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