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Mutation:
CANT1 V145L
Summary
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
Desbuquois dysplasia 1
Minor Allele Frequency: (ESP6500)
[0.0769]
Minor Allele Frequency: (1000 Genomes)
no data
PTM Site: 139S
Affected site:
Position: 139
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 145L | GYLTLSDSGDKVA[V/L]VE | 6 |
distal
|
| 141V | GYLTLSDSG[D/V]DKVAVE | 2 |
network-rewiring
|
| 140E | GYLTLSDS[G/E]GDKVAVE | 1 |
proximal
|
| 144T | GYLTLSDSGDKV[A/T]AVE | 5 |
distal
|
External references
dbSNP:
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