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Mutation:
STRADA G376R
Summary
Isoform:
Position:
376
Ref:
G
Mutation:
R
PTM impact:
distal
PTM affected:
1
Kinases:
STK11
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
Polyhydramnios, megalencephaly, and symptomatic epilepsy
Minor Allele Frequency: (ESP6500)
[0.0077]
Minor Allele Frequency: (1000 Genomes)
no data
PTM Site: 382T
Affected site:
Position: 382
Residue: T
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 388Q | SGIFGLVTNLEEL[E/Q]EV | 6 |
distal
|
| 385K | SGIFGLVTNL[E/K]EELEV | 3 |
network-rewiring
|
| 376R | S[G/R]GIFGLVTNLEELEV | 6 |
distal
|
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