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Mutation:

CTNND1 R253Q

Summary

Isoform:
NM_001206883
Position:
253
Ref:
R
Mutation:
Q
PTM impact:
network-rewiring
PTM affected:
6
Kinases:
MAPK1, MAPK3, MAPK1, MAPK3

Clinical Information

Cancer types: (TCGA MC3)

no data

Cancer types: (PCAWG)

no data

Disease Annotations: (ClinVar)

no data

Minor Allele Frequency: (ESP6500)

[0.008]

Minor Allele Frequency: (1000 Genomes)

[0.0199681]

PTM Site: 246S

Affected site:

Position: 246
Residue: S
Type: phosphorylation

Impact:

distal

Other known mutations affecting this site

Mutation In sequence Distance Impact
245I DLDYGM[M/I]MSDYGTARR 1
proximal
252H DLDYGMMSDYGTA[R/H]RR 6
distal
245L DLDYGM[M/L]MSDYGTARR 1
proximal

PTM Site: 248Y

Affected site:

Position: 248
Residue: Y
Type: phosphorylation

Impact:

distal

Other known mutations affecting this site

Mutation In sequence Distance Impact
245I DYGM[M/I]MSDYGTARRTG 3
distal
253Q DYGMMSDYGTAR[R/Q]RTG 5
distal
252H DYGMMSDYGTA[R/H]RRTG 4
distal
245L DYGM[M/L]MSDYGTARRTG 3
distal

PTM Site: 250T

Affected site:

Position: 250
Residue: T
Type: phosphorylation

Impact:

distal

Other known mutations affecting this site

Mutation In sequence Distance Impact
245I GM[M/I]MSDYGTARRTGTP 5
distal
253Q GMMSDYGTAR[R/Q]RTGTP 3
distal
252H GMMSDYGTA[R/H]RRTGTP 2
network-rewiring
245L GM[M/L]MSDYGTARRTGTP 5
distal

PTM Site: 254T

Affected site:

Position: 254
Residue: T
Type: phosphorylation

Impact:

proximal

Other known mutations affecting this site

Mutation In sequence Distance Impact
253Q DYGTAR[R/Q]RTGTPSDPR 1
proximal
252H DYGTA[R/H]RRTGTPSDPR 2
network-rewiring
258C DYGTARRTGTP[S/C]SDPR 4
distal

PTM Site: 256T

Affected site:

Position: 256
Residue: T
Type: phosphorylation

Best loss of PTM site:

AKT1 (probability p=0.988)
Site: 256T (phosphorylation)
Position in motif: -3
There are 12 other predicted losses:
  • RPS6KA1 (p=0.975)
  • RPS6KA1 (p=0.968)
  • AKT1 (p=0.948)
  • CAMK2A (p=0.935)
  • CHEK1 (p=0.935)
  • PRKACA (p=0.928)
  • AKT2 (p=0.913)
  • RPS6KB1 (p=0.905)
  • PRKAA1 (p=0.894)
  • CAMK1 (p=0.892)
  • CAMK4 (p=0.862)
  • PRKD1 (p=0.856)

Other known mutations affecting this site

Mutation In sequence Distance Impact
253Q GTAR[R/Q]RTGTPSDPRRR 3
network-rewiring
261C GTARRTGTPSDP[R/C]RRR 5
distal
252H GTA[R/H]RRTGTPSDPRRR 4
distal
258C GTARRTGTP[S/C]SDPRRR 2
proximal
261G GTARRTGTPSDP[R/G]RRR 5
distal

PTM Site: 258S

Affected site:

Position: 258
Residue: S
Type: phosphorylation

Best loss of PTM site:

AKT1 (probability p=0.988)
Site: 256T (phosphorylation)
Position in motif: -3
There are 12 other predicted losses:
  • RPS6KA1 (p=0.975)
  • RPS6KA1 (p=0.968)
  • AKT1 (p=0.948)
  • CAMK2A (p=0.935)
  • CHEK1 (p=0.935)
  • PRKACA (p=0.928)
  • AKT2 (p=0.913)
  • RPS6KB1 (p=0.905)
  • PRKAA1 (p=0.894)
  • CAMK1 (p=0.892)
  • CAMK4 (p=0.862)
  • PRKD1 (p=0.856)

Other known mutations affecting this site

Mutation In sequence Distance Impact
253Q AR[R/Q]RTGTPSDPRRRLR 5
network-rewiring
261C ARRTGTPSDP[R/C]RRRLR 3
distal
252H A[R/H]RRTGTPSDPRRRLR 6
distal
263H ARRTGTPSDPRR[R/H]RLR 5
distal
258C ARRTGTP[S/C]SDPRRRLR 0
direct
261G ARRTGTPSDP[R/G]RRRLR 3
distal

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