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Mutation:

TP53 C135F

Summary

Isoform:
NM_000546
Position:
135
Ref:
C
Mutation:
F
PTM impact:
distal
PTM affected:
2
Kinases:

Clinical Information

Cancer types: (TCGA MC3)

LUAD, LUSC, BRCA, STAD, PRAD, ESCA

Cancer types: (PCAWG)

Lung-SCC, Ovary-AdenoCA, Eso-AdenoCa, Lymph-CLL

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: 132K

Affected site:

Position: 132
Residue: K
Type: ubiquitination

Impact:

distal

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

PTM Site: 139K

Affected site:

Position: 139
Residue: K
Type: ubiquitination

Impact:

distal

Other known mutations affecting this site

Mutation In sequence Distance Impact
145P KMFCQLAKTCPVQ[L/P]LW 6
distal
145Q KMFCQLAKTCPVQ[L/Q]LW 6
distal
144H KMFCQLAKTCPV[Q/H]QLW 5
distal
144L KMFCQLAKTCPV[Q/L]QLW 5
distal
144P KMFCQLAKTCPV[Q/P]QLW 5
distal
143G KMFCQLAKTCP[V/G]VQLW 4
distal
143A KMFCQLAKTCP[V/A]VQLW 4
distal
143L KMFCQLAKTCP[V/L]VQLW 4
distal
143M KMFCQLAKTCP[V/M]VQLW 4
distal
142L KMFCQLAKTC[P/L]PVQLW 3
distal
142S KMFCQLAKTC[P/S]PVQLW 3
distal
141W KMFCQLAKT[C/W]CPVQLW 2
proximal
141F KMFCQLAKT[C/F]CPVQLW 2
proximal
141Y KMFCQLAKT[C/Y]CPVQLW 2
proximal
141G KMFCQLAKT[C/G]CPVQLW 2
proximal
141R KMFCQLAKT[C/R]CPVQLW 2
proximal
140N KMFCQLAK[T/N]TCPVQLW 1
proximal
140A KMFCQLAK[T/A]TCPVQLW 1
proximal
139N KMFCQLA[K/N]KTCPVQLW 0
direct
139E KMFCQLA[K/E]KTCPVQLW 0
direct
138V KMFCQL[A/V]AKTCPVQLW 1
proximal
138D KMFCQL[A/D]AKTCPVQLW 1
proximal
138P KMFCQL[A/P]AKTCPVQLW 1
proximal
136H KMFC[Q/H]QLAKTCPVQLW 3
distal
136P KMFC[Q/P]QLAKTCPVQLW 3
distal
136E KMFC[Q/E]QLAKTCPVQLW 3
distal
135W KMF[C/W]CQLAKTCPVQLW 4
distal
135F KMF[C/F]CQLAKTCPVQLW 4
distal
135Y KMF[C/Y]CQLAKTCPVQLW 4
distal
135G KMF[C/G]CQLAKTCPVQLW 4
distal
135R KMF[C/R]CQLAKTCPVQLW 4
distal
135S KMF[C/S]CQLAKTCPVQLW 4
distal
134C KM[F/C]FCQLAKTCPVQLW 5
distal
134L KM[F/L]FCQLAKTCPVQLW 5
distal
134I KM[F/I]FCQLAKTCPVQLW 5
distal
143E KMFCQLAKTCP[V/E]VQLW 4
distal
138T KMFCQL[A/T]AKTCPVQLW 1
proximal
133K K[M/K]MFCQLAKTCPVQLW 6
distal
145R KMFCQLAKTCPVQ[L/R]LW 6
distal
134V KM[F/V]FCQLAKTCPVQLW 5
distal
137Q KMFCQ[L/Q]LAKTCPVQLW 2
proximal
133R K[M/R]MFCQLAKTCPVQLW 6
distal

External references

dbSNP:
rs587781991

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