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
| Lost Function | Retained Function | Gain of Function | Dominant Negative Activity | Temperature Sensitivity | Cell Lines | PubMed |
|---|---|---|---|---|---|---|
| TRANSF- | NA | TRANSF+ (moderate) | NA | NA | REF | 10229196 |
| NA | GS (in vitro) | NA | NA | NA | H1299 | 29979965 |
| TA (WAF1 5') partial; TA (WAF1 3', P53R2, GADD45, CD95-Fas, 14-3-3s, PCNA, AIP1, MDM2, MDM2-RE2, RGC, IGF-BP3, PA26, BAX) | NA | NA | Yes [TA (IGF-BP3, WAF1 3', NOXA, PUMA)] moderate | NA | Yeast | 12909720 |
| TA (MDM2, BAX, PUMA); TA (WAF1) partial | NA | NA | Yes [TA (MDM2, BAX)]; No [TA (PUMA, WAF1)] | NA | Yeast | 21343334 |
| NA | NA | NA | Yes [TA (BAX)]; No [TA (WAF1 5’, PIG3)] | NA | Yeast | 11896595 |
| TA (RGC) | NA | p73beta interference | NA | NA | Yeast | 12917626 |
| Upregulation (p21waf1) partial; TA (MDM2, BAX, IGF-BP3-boxA) | TA (WAF1, PIG3); GS; APO | NA | NA | NA | Saos-2 | 10229196 |
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 |
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