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You are viewing an updated version (2021) of the ActiveDriverDB. To view the previous version please visit activedriverdb.org/v2020
Mutation:

TP53 D49H

Summary

Isoform:
NM_001276698
Position:
49
Ref:
D
Mutation:
H
PTM impact:
proximal
PTM affected:
4
Kinases:
AURKB, AURKA, PAK4, AURORA A, AURKB

Clinical Information

Cancer types: (TCGA MC3)

no data

Cancer types: (PCAWG)

no data

Disease Annotations: (ClinVar)

Hereditary cancer-predisposing 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:

proximal

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

PTM Site: 54R

Affected site:

Position: 54
Residue: R
Type: methylation

Impact:

distal

Other known mutations affecting this site

Mutation In sequence Distance Impact
60L LDDRNTFRHSVVV[P/L]PY 6
distal
60R LDDRNTFRHSVVV[P/R]PY 6
distal
60S LDDRNTFRHSVVV[P/S]PY 6
distal
59G LDDRNTFRHSVV[V/G]VPY 5
distal
59M LDDRNTFRHSVV[V/M]VPY 5
distal
58M LDDRNTFRHSV[V/M]VVPY 4
distal
57G LDDRNTFRHS[V/G]VVVPY 3
distal
57E LDDRNTFRHS[V/E]VVVPY 3
distal
57L LDDRNTFRHS[V/L]VVVPY 3
distal
57M LDDRNTFRHS[V/M]VVVPY 3
distal
56R LDDRNTFRH[S/R]SVVVPY 2
proximal
56I LDDRNTFRH[S/I]SVVVPY 2
proximal
56T LDDRNTFRH[S/T]SVVVPY 2
proximal
56N LDDRNTFRH[S/N]SVVVPY 2
proximal
56G LDDRNTFRH[S/G]SVVVPY 2
proximal
55Q LDDRNTFR[H/Q]HSVVVPY 1
proximal
55L LDDRNTFR[H/L]HSVVVPY 1
proximal
55R LDDRNTFR[H/R]HSVVVPY 1
proximal
55P LDDRNTFR[H/P]HSVVVPY 1
proximal
55N LDDRNTFR[H/N]HSVVVPY 1
proximal
54L LDDRNTF[R/L]RHSVVVPY 0
direct
54P LDDRNTF[R/P]RHSVVVPY 0
direct
54Q LDDRNTF[R/Q]RHSVVVPY 0
direct
54G LDDRNTF[R/G]RHSVVVPY 0
direct
53I LDDRNT[F/I]FRHSVVVPY 1
proximal
52A LDDRN[T/A]TFRHSVVVPY 2
proximal
52P LDDRN[T/P]TFRHSVVVPY 2
proximal
51Y LDDR[N/Y]NTFRHSVVVPY 3
distal
50K LDD[R/K]RNTFRHSVVVPY 4
distal
50G LDD[R/G]RNTFRHSVVVPY 4
distal
49G LD[D/G]DRNTFRHSVVVPY 5
distal
49H LD[D/H]DRNTFRHSVVVPY 5
distal
48H L[D/H]DDRNTFRHSVVVPY 6
distal
52I LDDRN[T/I]TFRHSVVVPY 2
proximal
49N LD[D/N]DRNTFRHSVVVPY 5
distal
59E LDDRNTFRHSVV[V/E]VPY 5
distal
53V LDDRNT[F/V]FRHSVVVPY 1
proximal
58G LDDRNTFRHSV[V/G]VVPY 4
distal

PTM Site: 56S

Affected site:

Position: 56
Residue: S
Type: phosphorylation

Impact:

distal

Other known mutations affecting this site

Mutation In sequence Distance Impact
62A DRNTFRHSVVVPY[E/A]EP 6
distal
62K DRNTFRHSVVVPY[E/K]EP 6
distal
61C DRNTFRHSVVVP[Y/C]YEP 5
distal
61S DRNTFRHSVVVP[Y/S]YEP 5
distal
61D DRNTFRHSVVVP[Y/D]YEP 5
distal
61H DRNTFRHSVVVP[Y/H]YEP 5
distal
61N DRNTFRHSVVVP[Y/N]YEP 5
distal
60L DRNTFRHSVVV[P/L]PYEP 4
distal
60R DRNTFRHSVVV[P/R]PYEP 4
distal
60S DRNTFRHSVVV[P/S]PYEP 4
distal
59G DRNTFRHSVV[V/G]VPYEP 3
distal
59M DRNTFRHSVV[V/M]VPYEP 3
distal
58M DRNTFRHSV[V/M]VVPYEP 2
proximal
57G DRNTFRHS[V/G]VVVPYEP 1
proximal
57E DRNTFRHS[V/E]VVVPYEP 1
proximal
57L DRNTFRHS[V/L]VVVPYEP 1
proximal
57M DRNTFRHS[V/M]VVVPYEP 1
proximal
56R DRNTFRH[S/R]SVVVPYEP 0
direct
56I DRNTFRH[S/I]SVVVPYEP 0
direct
56T DRNTFRH[S/T]SVVVPYEP 0
direct
56N DRNTFRH[S/N]SVVVPYEP 0
direct
56G DRNTFRH[S/G]SVVVPYEP 0
direct
55Q DRNTFR[H/Q]HSVVVPYEP 1
proximal
55L DRNTFR[H/L]HSVVVPYEP 1
proximal
55R DRNTFR[H/R]HSVVVPYEP 1
proximal
55P DRNTFR[H/P]HSVVVPYEP 1
proximal
55N DRNTFR[H/N]HSVVVPYEP 1
proximal
54L DRNTF[R/L]RHSVVVPYEP 2
network-rewiring
54P DRNTF[R/P]RHSVVVPYEP 2
network-rewiring
54Q DRNTF[R/Q]RHSVVVPYEP 2
network-rewiring
54G DRNTF[R/G]RHSVVVPYEP 2
network-rewiring
53I DRNT[F/I]FRHSVVVPYEP 3
distal
52A DRN[T/A]TFRHSVVVPYEP 4
distal
52P DRN[T/P]TFRHSVVVPYEP 4
distal
51Y DR[N/Y]NTFRHSVVVPYEP 5
distal
50K D[R/K]RNTFRHSVVVPYEP 6
distal
50G D[R/G]RNTFRHSVVVPYEP 6
distal
52I DRN[T/I]TFRHSVVVPYEP 4
distal
59E DRNTFRHSVV[V/E]VPYEP 3
distal
53V DRNT[F/V]FRHSVVVPYEP 3
distal
58G DRNTFRHSV[V/G]VVPYEP 2
proximal

External references

dbSNP:
rs1597368376

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