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Summary

Isoform:
Position:
140
Ref:
T
Mutation:
A
PTM impact:
proximal
PTM affected:
1
Kinases:

Clinical Information

Cancer types: (TCGA MC3)

no data

Cancer types: (PCAWG)

no data

Disease Annotations: (ClinVar)

Li-Fraumeni syndrome

Minor Allele Frequency: (ESP6500)

no data

Minor Allele Frequency: (1000 Genomes)

no data

PTM Site: 139K

Affected site:

Position: 139
Residue: K
Type: ubiquitination

Impact:

proximal

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:

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