A422D Summary
SCN5A A422D was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A422D is not present in gnomAD. A422D has been functionally characterized in 0 papers. Other variants at the same resdue are A422D .A422G .A422P .A422S .A422T .A422V .
This residue is located in a Non_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.
A422D Predictions
PROVEAN scores less than -2 are considered deleterious. REVEL scores higher than 0.5 or 0.75 is considered likely pathogenic (higher sensitivity with the former cutoff, higher specificity with the latter cutoff). A PolyPhen-2 score of 0.85 or greater is considered likely pathogenic. PAM scores reflect the chemistry difference between WT and variant amino acid (more negative being greater difference between the two). BLAST-PSSM reflects the evolutionary conservation of residue substitutions, more negative numbers indicate fewer observations of the specific substitution than is expected.
| SIFT |
Sift Score |
PROVEAN Score |
Polyphen2 |
Polyphen2 Score |
eaRate |
blastPssm |
pamScore |
REVEL |
| NA |
NA |
NA |
NA |
NA |
NA |
NA |
NA |
0.807 |
A422D has 25 neighbors within 15 ångströms that have been found in individuals.
A residue within a folded protein on average has nearest neighbors that fall roughly into two shells: a "nearest" neighbor around 5-6 angstroms and a second shell around 11 angstroms.
| ResidueNumber |
Distance(Å) |
Variants |
| 235 |
12.9 |
|
| 236 |
13.9 |
|
| 237 |
10.6 |
|
| 238 |
9.4 |
|
| 239 |
13 |
I239V I239V |
| 240 |
13.7 |
V240M |
| 241 |
10.9 |
|
| 242 |
11.3 |
|
| 244 |
14.3 |
|
| 245 |
11.9 |
Q245K |
| 246 |
15 |
|
| 249 |
14.9 |
|
| 413 |
13.9 |
A413T |
| 414 |
12.7 |
|
| 415 |
10.3 |
|
| 416 |
10.3 |
Y416C |
| 417 |
8.8 |
|
| 418 |
6.6 |
|
| 419 |
5 |
|
| 420 |
6.4 |
|
| 421 |
5.2 |
|
| 423 |
3.9 |
|
| 940 |
13.5 |
|
| 1780 |
14.5 |
|
| 1783 |
14.9 |
|