D349V Summary
SCN5A D349V was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D349V is not present in gnomAD. D349V has been functionally characterized in 0 papers. Other variants at the same resdue are D349A .D349E .D349E .D349G .D349H .D349N .D349V .D349Y .
This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
D349V 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 |
0.954 |
D349V has 54 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 |
| 274 |
14.7 |
|
| 276 |
10.5 |
L276Q |
| 277 |
12.1 |
|
| 278 |
14.8 |
|
| 279 |
12.1 |
|
| 321 |
12.2 |
|
| 322 |
8.6 |
|
| 323 |
10.2 |
|
| 324 |
10.5 |
|
| 325 |
10.9 |
|
| 344 |
14.3 |
|
| 345 |
12.5 |
|
| 346 |
9.9 |
E346K |
| 347 |
6.9 |
|
| 348 |
4.3 |
|
| 350 |
4.6 |
|
| 351 |
6.6 |
G351S G351V |
| 352 |
8.5 |
|
| 353 |
6.3 |
T353I |
| 354 |
10 |
|
| 355 |
13.5 |
F355I |
| 356 |
14.6 |
D356N |
| 360 |
12.4 |
|
| 361 |
14.9 |
|
| 363 |
12.9 |
|
| 364 |
12.2 |
|
| 367 |
11.4 |
R367C R367H |
| 372 |
13.1 |
|
| 373 |
11 |
|
| 374 |
14.6 |
|
| 375 |
12.2 |
|
| 376 |
6.9 |
R376H |
| 377 |
9.7 |
|
| 379 |
12.3 |
|
| 380 |
8.3 |
|
| 381 |
13 |
|
| 383 |
13.7 |
|
| 384 |
14.6 |
|
| 871 |
12.3 |
|
| 872 |
10.8 |
D872N |
| 873 |
14.9 |
|
| 898 |
14.9 |
|
| 899 |
13.8 |
|
| 900 |
9.6 |
|
| 901 |
9.1 |
E901K |
| 902 |
12.6 |
|
| 903 |
11.9 |
|
| 904 |
7.3 |
|
| 905 |
10.1 |
|
| 906 |
14.1 |
|
| 907 |
12.3 |
|
| 908 |
10.6 |
|
| 909 |
14.9 |
|
| 912 |
14.7 |
Q912R |