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Mutation:

TP53 R116G

Summary

Isoform:
NM_001126117
Position:
116
Ref:
R
Mutation:
G
PTM impact:
proximal
PTM affected:
1
Kinases:
CDK4

Clinical Information

Cancer types: (TCGA MC3)

BLCA

Cancer types: (PCAWG)

Ovary-AdenoCA

Disease Annotations: (ClinVar)

Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome, Carcinoma of colon

Minor Allele Frequency: (ESP6500)

no data

Minor Allele Frequency: (1000 Genomes)

no data

PTM Site: 117R

Affected site:

Position: 117
Residue: R
Type: phosphorylation

Impact:

proximal

Other known mutations affecting this site

Mutation In sequence Distance Impact
123S CMGGMNRRPILTI[I/S]IT 6
distal
123T CMGGMNRRPILTI[I/T]IT 6
distal
123N CMGGMNRRPILTI[I/N]IT 6
distal
123F CMGGMNRRPILTI[I/F]IT 6
distal
122S CMGGMNRRPILT[I/S]IIT 5
distal
122N CMGGMNRRPILT[I/N]IIT 5
distal
122V CMGGMNRRPILT[I/V]IIT 5
distal
121I CMGGMNRRPIL[T/I]TIIT 4
distal
121A CMGGMNRRPIL[T/A]TIIT 4
distal
120P CMGGMNRRPI[L/P]LTIIT 3
distal
119M CMGGMNRRP[I/M]ILTIIT 2
proximal
119N CMGGMNRRP[I/N]ILTIIT 2
proximal
119L CMGGMNRRP[I/L]ILTIIT 2
proximal
118L CMGGMNRR[P/L]PILTIIT 1
proximal
117S CMGGMNR[R/S]RPILTIIT 0
direct
117M CMGGMNR[R/M]RPILTIIT 0
direct
117T CMGGMNR[R/T]RPILTIIT 0
direct
117K CMGGMNR[R/K]RPILTIIT 0
direct
117W CMGGMNR[R/W]RPILTIIT 0
direct
117G CMGGMNR[R/G]RPILTIIT 0
direct
116L CMGGMN[R/L]RRPILTIIT 1
proximal
116P CMGGMN[R/P]RRPILTIIT 1
proximal
116Q CMGGMN[R/Q]RRPILTIIT 1
proximal
116W CMGGMN[R/W]RRPILTIIT 1
proximal
116G CMGGMN[R/G]RRPILTIIT 1
proximal
115I CMGGM[N/I]NRRPILTIIT 2
proximal
115S CMGGM[N/S]NRRPILTIIT 2
proximal
114I CMGG[M/I]MNRRPILTIIT 3
distal
114T CMGG[M/T]MNRRPILTIIT 3
distal
114K CMGG[M/K]MNRRPILTIIT 3
distal
114L CMGG[M/L]MNRRPILTIIT 3
distal
114V CMGG[M/V]MNRRPILTIIT 3
distal
113V CMG[G/V]GMNRRPILTIIT 4
distal
113A CMG[G/A]GMNRRPILTIIT 4
distal
113D CMG[G/D]GMNRRPILTIIT 4
distal
113C CMG[G/C]GMNRRPILTIIT 4
distal
113R CMG[G/R]GMNRRPILTIIT 4
distal
113S CMG[G/S]GMNRRPILTIIT 4
distal
112V CM[G/V]GGMNRRPILTIIT 5
distal
112A CM[G/A]GGMNRRPILTIIT 5
distal
112D CM[G/D]GGMNRRPILTIIT 5
distal
112C CM[G/C]GGMNRRPILTIIT 5
distal
112R CM[G/R]GGMNRRPILTIIT 5
distal
112S CM[G/S]GGMNRRPILTIIT 5
distal
111I C[M/I]MGGMNRRPILTIIT 6
distal
111T C[M/T]MGGMNRRPILTIIT 6
distal
111V C[M/V]MGGMNRRPILTIIT 6
distal
111L C[M/L]MGGMNRRPILTIIT 6
distal
114R CMGG[M/R]MNRRPILTIIT 3
distal
119F CMGGMNRRP[I/F]ILTIIT 2
proximal
118R CMGGMNRR[P/R]PILTIIT 1
proximal
121N CMGGMNRRPIL[T/N]TIIT 4
distal
122T CMGGMNRRPILT[I/T]IIT 5
distal

External references

dbSNP:
rs121912651

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