D454G Summary
SCN5A D454G was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D454G is not present in gnomAD. D454G has been functionally characterized in 0 papers. Other variants at the same resdue are D454A .D454E .D454E .D454G .D454H .D454N .D454V .D454Y .
This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
D454G 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 |
0.539 |
D454G has 30 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 |
439 |
14.7 |
|
440 |
14.2 |
|
441 |
13.7 |
|
442 |
13.2 |
|
443 |
12.6 |
|
444 |
12 |
|
445 |
11.4 |
H445D |
446 |
10.7 |
E446K |
447 |
10.1 |
A447G |
448 |
9.3 |
|
449 |
8.5 |
T449A |
450 |
7.6 |
|
451 |
6.6 |
|
452 |
5.4 |
|
453 |
3.8 |
V453M |
455 |
3.8 |
|
456 |
5.4 |
V456M |
457 |
6.6 |
|
458 |
7.6 |
R458C R458H |
459 |
8.5 |
|
460 |
9.3 |
|
461 |
10.1 |
L461V |
462 |
10.7 |
E462K |
463 |
11.4 |
M463R |
464 |
12 |
|
465 |
12.6 |
|
466 |
13.2 |
L466F L466F |
467 |
13.7 |
|
468 |
14.2 |
P468L |
469 |
14.7 |
|