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Mutation:
GMIP D436N
Summary
Isoform:
Position:
436
Ref:
D
Mutation:
N
PTM impact:
network-rewiring
PTM affected:
6
Kinases:
Clinical Information
Cancer types: (TCGA MC3)
no data
Cancer types: (PCAWG)
no data
Disease Annotations: (ClinVar)
no data
Minor Allele Frequency: (ESP6500)
no data
Minor Allele Frequency: (1000 Genomes)
[0.0199681]
PTM Site: 430S
Affected site:
Position: 430
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
Mutation | In sequence | Distance | Impact |
---|---|---|---|
433W | VDSVGGGSES[R/W]RSLDS | 3 |
distal
|
432C | VDSVGGGSE[S/C]SRSLDS | 2 |
proximal
|
431Q | VDSVGGGS[E/Q]ESRSLDS | 1 |
proximal
|
426M | VDS[V/M]VGGGSESRSLDS | 4 |
distal
|
436N | VDSVGGGSESRSL[D/N]DS | 6 |
distal
|
429C | VDSVGG[G/C]GSESRSLDS | 1 |
proximal
|
PTM Site: 434S
Affected site:
Position: 434
Residue: S
Type: phosphorylation
Only loss of PTM site:
CAMK2A (probability p=0.935)
Site: 434S (phosphorylation)
Position in motif: 2
Other known mutations affecting this site
Mutation | In sequence | Distance | Impact |
---|---|---|---|
433W | GGGSES[R/W]RSLDSPTSS | 1 |
proximal
|
432C | GGGSE[S/C]SRSLDSPTSS | 2 |
proximal
|
431Q | GGGS[E/Q]ESRSLDSPTSS | 3 |
distal
|
436N | GGGSESRSL[D/N]DSPTSS | 2 |
network-rewiring
|
429C | GG[G/C]GSESRSLDSPTSS | 5 |
distal
|
437A | GGGSESRSLD[S/A]SPTSS | 3 |
network-rewiring
|
440F | GGGSESRSLDSPT[S/F]SS | 6 |
distal
|
PTM Site: 437S
Affected site:
Position: 437
Residue: S
Type: phosphorylation
Impact:
proximalOther known mutations affecting this site
Mutation | In sequence | Distance | Impact |
---|---|---|---|
433W | SES[R/W]RSLDSPTSSPGA | 4 |
distal
|
432C | SE[S/C]SRSLDSPTSSPGA | 5 |
distal
|
431Q | S[E/Q]ESRSLDSPTSSPGA | 6 |
distal
|
436N | SESRSL[D/N]DSPTSSPGA | 1 |
proximal
|
437A | SESRSLD[S/A]SPTSSPGA | 0 |
direct
|
440F | SESRSLDSPT[S/F]SSPGA | 3 |
network-rewiring
|
PTM Site: 439T
Affected site:
Position: 439
Residue: T
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
Mutation | In sequence | Distance | Impact |
---|---|---|---|
433W | S[R/W]RSLDSPTSSPGAGT | 6 |
distal
|
436N | SRSL[D/N]DSPTSSPGAGT | 3 |
distal
|
437A | SRSLD[S/A]SPTSSPGAGT | 2 |
proximal
|
440F | SRSLDSPT[S/F]SSPGAGT | 1 |
proximal
|
PTM Site: 440S
Affected site:
Position: 440
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
Mutation | In sequence | Distance | Impact |
---|---|---|---|
446M | RSLDSPTSSPGAG[T/M]TR | 6 |
distal
|
436N | RSL[D/N]DSPTSSPGAGTR | 4 |
distal
|
437A | RSLD[S/A]SPTSSPGAGTR | 3 |
distal
|
440F | RSLDSPT[S/F]SSPGAGTR | 0 |
direct
|
PTM Site: 441S
Affected site:
Position: 441
Residue: S
Type: phosphorylation
Impact:
distalOther known mutations affecting this site
Mutation | In sequence | Distance | Impact |
---|---|---|---|
446M | SLDSPTSSPGAG[T/M]TRQ | 5 |
distal
|
436N | SL[D/N]DSPTSSPGAGTRQ | 5 |
distal
|
437A | SLD[S/A]SPTSSPGAGTRQ | 4 |
distal
|
440F | SLDSPT[S/F]SSPGAGTRQ | 1 |
proximal
|
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