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Mutation:

TP53 L130F

Summary

Isoform:
NM_000546
Position:
130
Ref:
L
Mutation:
F
PTM impact:
proximal
PTM affected:
2
Kinases:
SRC

Clinical Information

Cancer types: (TCGA MC3)

GBM, LUAD, STAD

Cancer types: (PCAWG)

Liver-HCC, Panc-AdenoCA

Disease Annotations: (ClinVar)

Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome

Minor Allele Frequency: (ESP6500)

no data

Minor Allele Frequency: (1000 Genomes)

no data

PTM Site: 126Y

Affected site:

Position: 126
Residue: Y
Type: phosphorylation

Impact:

distal

Other known mutations affecting this site

Mutation In sequence Distance Impact
132N AKSVTCTYSPALN[K/N]KM 6
distal
132M AKSVTCTYSPALN[K/M]KM 6
distal
132R AKSVTCTYSPALN[K/R]KM 6
distal
132T AKSVTCTYSPALN[K/T]KM 6
distal
132E AKSVTCTYSPALN[K/E]KM 6
distal
132Q AKSVTCTYSPALN[K/Q]KM 6
distal
131K AKSVTCTYSPAL[N/K]NKM 5
distal
131I AKSVTCTYSPAL[N/I]NKM 5
distal
131Y AKSVTCTYSPAL[N/Y]NKM 5
distal
130P AKSVTCTYSPA[L/P]LNKM 4
distal
130H AKSVTCTYSPA[L/H]LNKM 4
distal
130F AKSVTCTYSPA[L/F]LNKM 4
distal
130V AKSVTCTYSPA[L/V]LNKM 4
distal
129G AKSVTCTYSP[A/G]ALNKM 3
distal
129S AKSVTCTYSP[A/S]ALNKM 3
distal
129T AKSVTCTYSP[A/T]ALNKM 3
distal
128L AKSVTCTYS[P/L]PALNKM 2
proximal
128T AKSVTCTYS[P/T]PALNKM 2
proximal
127F AKSVTCTY[S/F]SPALNKM 1
proximal
127C AKSVTCTY[S/C]SPALNKM 1
proximal
127Y AKSVTCTY[S/Y]SPALNKM 1
proximal
127P AKSVTCTY[S/P]SPALNKM 1
proximal
127T AKSVTCTY[S/T]SPALNKM 1
proximal
126C AKSVTCT[Y/C]YSPALNKM 0
direct
126D AKSVTCT[Y/D]YSPALNKM 0
direct
126N AKSVTCT[Y/N]YSPALNKM 0
direct
125M AKSVTC[T/M]TYSPALNKM 1
proximal
125R AKSVTC[T/R]TYSPALNKM 1
proximal
125K AKSVTC[T/K]TYSPALNKM 1
proximal
125P AKSVTC[T/P]TYSPALNKM 1
proximal
124G AKSVT[C/G]CTYSPALNKM 2
proximal
124S AKSVT[C/S]CTYSPALNKM 2
proximal
123I AKSV[T/I]TCTYSPALNKM 3
distal
122M AKS[V/M]VTCTYSPALNKM 4
distal
121P AK[S/P]SVTCTYSPALNKM 5
distal
120E A[K/E]KSVTCTYSPALNKM 6
distal
126H AKSVTCT[Y/H]YSPALNKM 0
direct
126S AKSVTCT[Y/S]YSPALNKM 0
direct
130R AKSVTCTYSPA[L/R]LNKM 4
distal
131S AKSVTCTYSPAL[N/S]NKM 5
distal
121Y AK[S/Y]SVTCTYSPALNKM 5
distal

PTM Site: 132K

Affected site:

Position: 132
Residue: K
Type: ubiquitination

Impact:

proximal

Other known mutations affecting this site

Mutation In sequence Distance Impact
138V TYSPALNKMFCQL[A/V]AK 6
distal
138D TYSPALNKMFCQL[A/D]AK 6
distal
138P TYSPALNKMFCQL[A/P]AK 6
distal
136H TYSPALNKMFC[Q/H]QLAK 4
distal
136P TYSPALNKMFC[Q/P]QLAK 4
distal
136E TYSPALNKMFC[Q/E]QLAK 4
distal
135W TYSPALNKMF[C/W]CQLAK 3
distal
135F TYSPALNKMF[C/F]CQLAK 3
distal
135Y TYSPALNKMF[C/Y]CQLAK 3
distal
135G TYSPALNKMF[C/G]CQLAK 3
distal
135R TYSPALNKMF[C/R]CQLAK 3
distal
135S TYSPALNKMF[C/S]CQLAK 3
distal
134C TYSPALNKM[F/C]FCQLAK 2
proximal
134L TYSPALNKM[F/L]FCQLAK 2
proximal
134I TYSPALNKM[F/I]FCQLAK 2
proximal
132N TYSPALN[K/N]KMFCQLAK 0
direct
132M TYSPALN[K/M]KMFCQLAK 0
direct
132R TYSPALN[K/R]KMFCQLAK 0
direct
132T TYSPALN[K/T]KMFCQLAK 0
direct
132E TYSPALN[K/E]KMFCQLAK 0
direct
132Q TYSPALN[K/Q]KMFCQLAK 0
direct
131K TYSPAL[N/K]NKMFCQLAK 1
proximal
131I TYSPAL[N/I]NKMFCQLAK 1
proximal
131Y TYSPAL[N/Y]NKMFCQLAK 1
proximal
130P TYSPA[L/P]LNKMFCQLAK 2
proximal
130H TYSPA[L/H]LNKMFCQLAK 2
proximal
130F TYSPA[L/F]LNKMFCQLAK 2
proximal
130V TYSPA[L/V]LNKMFCQLAK 2
proximal
129G TYSP[A/G]ALNKMFCQLAK 3
distal
129S TYSP[A/S]ALNKMFCQLAK 3
distal
129T TYSP[A/T]ALNKMFCQLAK 3
distal
128L TYS[P/L]PALNKMFCQLAK 4
distal
128T TYS[P/T]PALNKMFCQLAK 4
distal
127F TY[S/F]SPALNKMFCQLAK 5
distal
127C TY[S/C]SPALNKMFCQLAK 5
distal
127Y TY[S/Y]SPALNKMFCQLAK 5
distal
127P TY[S/P]SPALNKMFCQLAK 5
distal
127T TY[S/T]SPALNKMFCQLAK 5
distal
126C T[Y/C]YSPALNKMFCQLAK 6
distal
126D T[Y/D]YSPALNKMFCQLAK 6
distal
126N T[Y/N]YSPALNKMFCQLAK 6
distal
126H T[Y/H]YSPALNKMFCQLAK 6
distal
138T TYSPALNKMFCQL[A/T]AK 6
distal
133K TYSPALNK[M/K]MFCQLAK 1
proximal
134V TYSPALNKM[F/V]FCQLAK 2
proximal
126S T[Y/S]YSPALNKMFCQLAK 6
distal
137Q TYSPALNKMFCQ[L/Q]LAK 5
distal
133R TYSPALNK[M/R]MFCQLAK 1
proximal
130R TYSPA[L/R]LNKMFCQLAK 2
proximal
131S TYSPAL[N/S]NKMFCQLAK 1
proximal

External references

dbSNP:
rs863224683

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