Variant Selected: c.843C>A; p.D281E
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.7673777G>T | c.843C>A | p.D281E | 8-exon | no | no | A_C | GAC | GAA | 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 |
|---|---|---|---|---|---|---|---|
| 0.01 | 0 | 0 | 0 | 36 | -188 | -554 | 2417 |
Protein Features
| Structural Motif | Domain Function | Residue Function | Cancer Hotspot | Variant Rate | SwissProt |
|---|---|---|---|---|---|
| L1/S/H2 | DNA binding | Buried | yes | 0.053 | 006011 |
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) |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 2.7 | 1.2 | 5.9 | 1.9 | 3.2 | 0.8 | 3.0 | 2.9 |
Predicted or Observed Impacts on Protein Functions
| Transactivation Class | DNE | DNE_LOF Class | Align-GVGD | BayesDel | REVEL | SIFT | Polyphen2 | Structure Function |
|---|---|---|---|---|---|---|---|---|
| non-functional | Yes | notDNE_LOF | C35 | 0.5464 | 0.909 | Damaging | D | non-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 | WT |
Various Activities Assessed in Yeast or Human Assays
| Lost Function | Retained Function | Gain of Function | Dominant Negative Activity | Temperature Sensitivity | Cell Lines | PubMed |
|---|---|---|---|---|---|---|
| NA | NA | No (TRANSF+) | NA | NA | REF | 7718482 |
| GS (in vitro) | NA | NA | NA | NA | H1299 | 29979965 |
| TA (11 different p53-RE) | NA | NA | NA | NA | Yeast | 20407015 |
| NA | NA | NA | Yes [TA (RGC, WAF1 5’, BAX, PIG3)] | NA | Yeast | 11896595 |
| TA (RGC) | NA | NA | Yes [TA (RGC)] | NA | Yeast | 11238194 |
| TA (RGC) | NA | NA | NA | NA | Yeast | 7732013 |
| TA (RGC) | NA | NA | NA | NA | Yeast | 9929165 |
| TA (RGC) | NA | p73beta interference | Yes [TA (RGC)] | NA | Yeast | 12917626 |
| TA (WAF1, BAX, PIG3) | NA | NA | NA | No (WAF1, BAX, PIG3) | Yeast | 11429705 |
| TR (HSP70) | NA | No [TA (HSP70)]; no (hsc70 binding) | NA | NA | Saos-2 | 7718482 |
Mouse Models Engineered with the Selected Mutant
No Data
Experimentally Induced Variants
No Data
Loading...
Loading...
Loading...