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 |
|
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
Mouse Models Engineered with the Selected Mutant
No Data
Experimentally Induced Variants
No Data