Variant Selected: c.916C>G; p.R306G
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.7673704G>C |
c.916C>G |
p.R306G |
8-exon |
yes |
no |
G_G |
CGA |
GGA |
missense |
2 |
Predicted or Observed Splicing Effects on Main Transcript
|
Site Type
|
p53Site
|
WT Score
|
MUT Score
|
Variation
|
Source
|
| Donor |
consensus SD |
1.0 |
1.0 |
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 |
0.01 |
0.01 |
0 |
-365 |
-128 |
-481 |
-3 |
Protein Features
|
Structural Motif
|
Domain Function
|
Residue Function
|
Cancer Hotspot
|
Variant Rate
|
SwissProt
|
| C-term/NLS |
NA |
NA |
yes |
0.121 |
|
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)
|
| 20.4 |
0.0 |
2.3 |
1.4 |
15.8 |
10.2 |
28.4 |
35.7 |
|
|
|
|
|
|
Predicted or Observed Impacts on Protein Functions
|
Transactivation Class
|
DNE
|
DNE_LOF Class
|
Align-GVGD
|
BayesDel
|
REVEL
|
SIFT
|
Polyphen2
|
Structure Function
|
| non-functional |
NA |
notDNE_notLOF |
C45 |
0.2946 |
0.741 |
Damaging |
D |
NA |
|
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
No Data
Mouse Models Engineered with the Selected Mutant
No Data
Experimentally Induced Variants
No Data
Loading...
Loading...
Loading...