D596A Summary
SCN5A D596A was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D596A is not present in gnomAD. D596A has been functionally characterized in 0 papers. Other variants at the same resdue are D596A .D596E .D596E .D596G .D596H .D596N .D596V .D596Y .
This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
D596A 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 |
0.825 |
D596A 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 |
581 |
14.7 |
S581L |
582 |
14.2 |
|
583 |
13.7 |
|
584 |
13.2 |
G584R |
585 |
12.6 |
|
586 |
12 |
A586T |
587 |
11.4 |
|
588 |
10.7 |
|
589 |
10.1 |
|
590 |
9.3 |
|
591 |
8.5 |
|
592 |
7.6 |
N592K N592K N592S |
593 |
6.6 |
|
594 |
5.4 |
|
595 |
3.8 |
|
597 |
3.8 |
|
598 |
5.4 |
|
599 |
6.6 |
G599R G599R |
600 |
7.6 |
|
601 |
8.5 |
|
602 |
9.3 |
|
603 |
10.1 |
|
604 |
10.7 |
L604V |
605 |
11.4 |
|
606 |
12 |
|
607 |
12.6 |
G607V |
608 |
13.2 |
D608N |
609 |
13.7 |
|
610 |
14.2 |
|
611 |
14.7 |
|