Variant Details

Variant Selected: c.541C>T; p.R181C

Variant Description

Genomic Description (hg38) cDNA Description Protein Description Exon nb CpG Site Splice Site Sequence Context WT Codon Mutant Codon Effect Effect Group3
g.7675071G>A c.541C>T p.R181C 5-exon yes no G_G CGC TGC missense 1

Predicted or Observed Splicing Effects on Main Transcript

Site Type p53Site WT Score MUT Score Variation Source
- no significant change NNSPLICE 0.9

SpliceAI Predictions on Canonical Transcript (NM_000546.5) by Jaganathan (2019) [ GitHub]

Delta Score_AG Delta Score_AL Delta Score_DG Delta Score_DL Delta Position_AG Delta Position_AL Delta Position_DG Delta Position_DL
0 0.01 0.03 0 997 -117 28 265

Protein Features

Structural Motif Domain Function Residue Function Cancer Hotspot Variant Rate SwissProt
L2/L3 DNA binding Exposed yes 1.28 044946

Systematic Assessment of Transactivation Capacities in Yeast and Saos2 Assays by Kato (2003) and Kakudo (2005)

WAF1 MDM2 BAX H1433s AIP1 GADD45 NOXA P53R2 WAF1 (Saos2) MDM2 (Saos2) BAX (Saos2) h1433s (Saos2) AIP1 (Saos2) PUMA (Saos2)
43.1 21.7 18.6 9.4 21.0 51.3 70.2 128.0

Predicted or Observed Impacts on Protein Functions

Transactivation Class DNE DNE_LOF Class Align-GVGD BayesDel REVEL SIFT Polyphen2 Structure Function
partially functional Moderate notDNE_notLOF C65 0.4693 0.891 Damaging D functional

Predicted Effect on p53 Protein Isoforms

TAp53 Alpha TAp53 Beta TAp53 Gamma Delta40p53 Alpha Delta40p53 Beta Delta40p53 Gamma Delta133p53 Alpha Delta133p53 Beta Delta133p53 Gamma Deltap53 Alpha
Altered Altered Altered Altered Altered Altered Altered Altered Altered Altered

Various Activities Assessed in Yeast or Human Assays

Mouse Models Engineered with the Selected Mutant

No Data

Experimentally Induced Variants

Exposure Model PubMed
B(a)P-7,8-dione Yeast reporter gene assay 23117049