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Mutation:
CBL E699G
Summary
Isoform:
Position:
699
Ref:
E
Mutation:
G
PTM impact:
proximal
PTM affected:
1
Kinases:
LCK,
INSR,
SYK,
YES,
FYN,
EGFR
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia
Minor Allele Frequency: (ESP6500)
no data
Minor Allele Frequency: (1000 Genomes)
no data
PTM Site: 700Y
Affected site:
Position: 700
Residue: Y
Type: phosphorylation
Impact:
proximalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 695K | EG[E/K]EEDTEYMTPSSRP | 5 |
distal
|
| 699G | EGEEDT[E/G]EYMTPSSRP | 1 |
proximal
|
| 703L | EGEEDTEYMT[P/L]PSSRP | 3 |
network-rewiring
|
| 696K | EGE[E/K]EDTEYMTPSSRP | 4 |
distal
|
| 699K | EGEEDT[E/K]EYMTPSSRP | 1 |
proximal
|
External references
dbSNP:
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