D322Y Summary
SCN5A D322Y was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D322Y is not present in gnomAD. D322Y has been functionally characterized in 0 papers. Other variants at the same resdue are D322A .D322E .D322E .D322G .D322H .D322N .D322V .D322Y .
This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
D322Y 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 |
0.866 |
D322Y has 36 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 |
| 276 |
13.4 |
L276Q |
| 277 |
12.4 |
|
| 278 |
13.6 |
|
| 279 |
8.1 |
|
| 280 |
10.2 |
|
| 281 |
11.6 |
V281M |
| 282 |
13.6 |
R282C R282H |
| 317 |
14.1 |
|
| 318 |
14.7 |
|
| 319 |
11 |
G319S |
| 320 |
8.8 |
T320N |
| 321 |
4.4 |
|
| 323 |
4.6 |
|
| 324 |
7.7 |
|
| 325 |
10.2 |
|
| 326 |
13 |
|
| 339 |
14.3 |
|
| 342 |
13.9 |
|
| 344 |
11.1 |
|
| 345 |
9.8 |
|
| 346 |
9 |
E346K |
| 347 |
9.4 |
|
| 348 |
8 |
|
| 349 |
8.6 |
D349N |
| 350 |
10.6 |
|
| 351 |
11 |
G351S G351V |
| 352 |
14.2 |
|
| 353 |
12.9 |
T353I |
| 354 |
15 |
|
| 376 |
12.9 |
R376H |
| 380 |
12 |
|
| 383 |
13.7 |
|
| 871 |
13.1 |
|
| 872 |
9.6 |
D872N |
| 873 |
12.6 |
|
| 908 |
14.8 |
|