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Mutation:
ANKRD11 R840W
Summary
Isoform:
Position:
840
Ref:
R
Mutation:
W
PTM impact:
network-rewiring
PTM affected:
3
Kinases:
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
Autism spectrum disorder
Minor Allele Frequency: (ESP6500)
no data
Minor Allele Frequency: (1000 Genomes)
no data
PTM Site: 834S
Affected site:
Position: 834
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 840W | EDTKFSLSDDQRD[R/W]RW | 6 |
distal
|
| 840Q | EDTKFSLSDDQRD[R/Q]RW | 6 |
distal
|
| 829N | ED[T/N]TKFSLSDDQRDRW | 5 |
distal
|
| 829A | ED[T/A]TKFSLSDDQRDRW | 5 |
distal
|
| 830R | EDT[K/R]KFSLSDDQRDRW | 4 |
distal
|
| 834F | EDTKFSL[S/F]SDDQRDRW | 0 |
direct
|
PTM Site: 843S
Affected site:
Position: 843
Residue: S
Type: phosphorylation
Best loss of PTM site:
RPS6KA1 (probability p=1.0)
Site: 843S (phosphorylation)
Position in motif: -3
There are 5 other predicted
losses:
- PRKAA1 (p=0.873)
- PRKACA (p=0.868)
- PRKCD (p=0.863)
- SGK1 (p=0.854)
- PRKD1 (p=0.853)
Other known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 840W | DQRD[R/W]RWFSDLSDSSF | 3 |
network-rewiring
|
| 840Q | DQRD[R/Q]RWFSDLSDSSF | 3 |
network-rewiring
|
| 847N | DQRDRWFSDLS[D/N]DSSF | 4 |
distal
|
PTM Site: 846S
Affected site:
Position: 846
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
| Mutation | In sequence | Distance | Impact |
|---|---|---|---|
| 840W | D[R/W]RWFSDLSDSSFDFK | 6 |
distal
|
| 840Q | D[R/Q]RWFSDLSDSSFDFK | 6 |
distal
|
| 847N | DRWFSDLS[D/N]DSSFDFK | 1 |
proximal
|
| 852L | DRWFSDLSDSSFD[F/L]FK | 6 |
distal
|
External references
dbSNP:
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