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Mutation:
CAB39L D315Y
Summary
Isoform:
Position:
315
Ref:
D
Mutation:
Y
PTM impact:
network-rewiring
PTM affected:
1
Kinases:
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: 313T
Affected site:
Position: 313
Residue: T
Type: phosphorylation
Only loss of PTM site:
CAMK2A (probability p=0.914)
Site: 313T (phosphorylation)
Position in motif: 2
Other known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 315Y | SSFQKERTD[D/Y]DEQFAD | 2 |
network-rewiring
|
| 313K | SSFQKER[T/K]TDDEQFAD | 0 |
direct
|
| 309H | SSF[Q/H]QKERTDDEQFAD | 4 |
distal
|
| 319T | SSFQKERTDDEQF[A/T]AD | 6 |
distal
|
| 311Q | SSFQK[E/Q]ERTDDEQFAD | 2 |
network-rewiring
|
| 314N | SSFQKERT[D/N]DDEQFAD | 1 |
proximal
|
| 314G | SSFQKERT[D/G]DDEQFAD | 1 |
proximal
|
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