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Mutation:

TP53 Y46C

Summary

Isoform:
NM_001276698
Position:
46
Ref:
Y
Mutation:
C
PTM impact:
distal
PTM affected:
2
Kinases:
AURKB

Clinical Information

Cancer types: (TCGA MC3)

LUAD, GBM, LUSC, UCEC, BRCA, STAD, COAD, HNSC, LIHC, SARC, KICH, ESCA

Cancer types: (PCAWG)

Bone-Leiomyo, Liver-HCC, ColoRect-AdenoCA, Uterus-AdenoCA, Breast-AdenoCa

Disease Annotations: (ClinVar)

Li-Fraumeni syndrome

Minor Allele Frequency: (ESP6500)

no data

Minor Allele Frequency: (1000 Genomes)

no data

PTM Site: 50R

Affected site:

Position: 50
Residue: R
Type: methylation

Impact:

distal

Other known mutations affecting this site

Mutation In sequence Distance Impact
56R RVEYLDDRNTFRH[S/R]SV 6
distal
56I RVEYLDDRNTFRH[S/I]SV 6
distal
56T RVEYLDDRNTFRH[S/T]SV 6
distal
56N RVEYLDDRNTFRH[S/N]SV 6
distal
56G RVEYLDDRNTFRH[S/G]SV 6
distal
55Q RVEYLDDRNTFR[H/Q]HSV 5
distal
55L RVEYLDDRNTFR[H/L]HSV 5
distal
55R RVEYLDDRNTFR[H/R]HSV 5
distal
55P RVEYLDDRNTFR[H/P]HSV 5
distal
55N RVEYLDDRNTFR[H/N]HSV 5
distal
54L RVEYLDDRNTF[R/L]RHSV 4
distal
54P RVEYLDDRNTF[R/P]RHSV 4
distal
54Q RVEYLDDRNTF[R/Q]RHSV 4
distal
54G RVEYLDDRNTF[R/G]RHSV 4
distal
53I RVEYLDDRNT[F/I]FRHSV 3
distal
52A RVEYLDDRN[T/A]TFRHSV 2
proximal
52P RVEYLDDRN[T/P]TFRHSV 2
proximal
51Y RVEYLDDR[N/Y]NTFRHSV 1
proximal
50K RVEYLDD[R/K]RNTFRHSV 0
direct
50G RVEYLDD[R/G]RNTFRHSV 0
direct
49G RVEYLD[D/G]DRNTFRHSV 1
proximal
49H RVEYLD[D/H]DRNTFRHSV 1
proximal
48H RVEYL[D/H]DDRNTFRHSV 2
proximal
47S RVEY[L/S]LDDRNTFRHSV 3
distal
46F RVE[Y/F]YLDDRNTFRHSV 4
distal
46C RVE[Y/C]YLDDRNTFRHSV 4
distal
46S RVE[Y/S]YLDDRNTFRHSV 4
distal
46D RVE[Y/D]YLDDRNTFRHSV 4
distal
46H RVE[Y/H]YLDDRNTFRHSV 4
distal
46N RVE[Y/N]YLDDRNTFRHSV 4
distal
45G RV[E/G]EYLDDRNTFRHSV 5
distal
44E R[V/E]VEYLDDRNTFRHSV 6
distal
44L R[V/L]VEYLDDRNTFRHSV 6
distal
44M R[V/M]VEYLDDRNTFRHSV 6
distal
52I RVEYLDDRN[T/I]TFRHSV 2
proximal
45Q RV[E/Q]EYLDDRNTFRHSV 5
distal
49N RVEYLD[D/N]DRNTFRHSV 1
proximal
45D RV[E/D]EYLDDRNTFRHSV 5
distal
53V RVEYLDDRNT[F/V]FRHSV 3
distal

PTM Site: 52T

Affected site:

Position: 52
Residue: T
Type: phosphorylation

Impact:

distal

Other known mutations affecting this site

Mutation In sequence Distance Impact
58M EYLDDRNTFRHSV[V/M]VV 6
distal
57G EYLDDRNTFRHS[V/G]VVV 5
distal
57E EYLDDRNTFRHS[V/E]VVV 5
distal
57L EYLDDRNTFRHS[V/L]VVV 5
distal
57M EYLDDRNTFRHS[V/M]VVV 5
distal
56R EYLDDRNTFRH[S/R]SVVV 4
distal
56I EYLDDRNTFRH[S/I]SVVV 4
distal
56T EYLDDRNTFRH[S/T]SVVV 4
distal
56N EYLDDRNTFRH[S/N]SVVV 4
distal
56G EYLDDRNTFRH[S/G]SVVV 4
distal
55Q EYLDDRNTFR[H/Q]HSVVV 3
distal
55L EYLDDRNTFR[H/L]HSVVV 3
distal
55R EYLDDRNTFR[H/R]HSVVV 3
distal
55P EYLDDRNTFR[H/P]HSVVV 3
distal
55N EYLDDRNTFR[H/N]HSVVV 3
distal
54L EYLDDRNTF[R/L]RHSVVV 2
network-rewiring
54P EYLDDRNTF[R/P]RHSVVV 2
network-rewiring
54Q EYLDDRNTF[R/Q]RHSVVV 2
network-rewiring
54G EYLDDRNTF[R/G]RHSVVV 2
network-rewiring
53I EYLDDRNT[F/I]FRHSVVV 1
proximal
52A EYLDDRN[T/A]TFRHSVVV 0
direct
52P EYLDDRN[T/P]TFRHSVVV 0
direct
51Y EYLDDR[N/Y]NTFRHSVVV 1
proximal
50K EYLDD[R/K]RNTFRHSVVV 2
network-rewiring
50G EYLDD[R/G]RNTFRHSVVV 2
network-rewiring
49G EYLD[D/G]DRNTFRHSVVV 3
distal
49H EYLD[D/H]DRNTFRHSVVV 3
distal
48H EYL[D/H]DDRNTFRHSVVV 4
distal
47S EY[L/S]LDDRNTFRHSVVV 5
distal
46F E[Y/F]YLDDRNTFRHSVVV 6
distal
46C E[Y/C]YLDDRNTFRHSVVV 6
distal
46S E[Y/S]YLDDRNTFRHSVVV 6
distal
46D E[Y/D]YLDDRNTFRHSVVV 6
distal
46H E[Y/H]YLDDRNTFRHSVVV 6
distal
46N E[Y/N]YLDDRNTFRHSVVV 6
distal
52I EYLDDRN[T/I]TFRHSVVV 0
direct
49N EYLD[D/N]DRNTFRHSVVV 3
distal
53V EYLDDRNT[F/V]FRHSVVV 1
proximal
58G EYLDDRNTFRHSV[V/G]VV 6
distal

External references

dbSNP:
rs1057520007

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