TP53 R116Q

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Mutation:

Summary

Isoform:

NM_001126117

Position:

116

Ref:

Mutation:

PTM impact:

proximal

PTM affected:

Kinases:

CDK4

Clinical Information

Cancer types: (TCGA MC3)

GBM, OV, LUSC, BLCA, COAD, READ, UCEC, BRCA, STAD, HNSC, LGG, PAAD, PRAD, ESCA, UCS, LIHC, SARC

Cancer types: (PCAWG)

CNS-GBM, Panc-AdenoCA, Breast-AdenoCa, Ovary-AdenoCA, Bladder-TCC, Lung-SCC, Uterus-AdenoCA, Eso-AdenoCa, Lymph-BNHL, Stomach-AdenoCA, Panc-Endocrine

Disease Annotations: (ClinVar)

Sarcoma, Li-Fraumeni syndrome, Hereditary cancer-predisposing syndrome, Li-Fraumeni syndrome 1

Minor Allele Frequency: (ESP6500)

[0.0077]

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:

rs11540652

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