D629E Summary
SCN5A D629E was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D629E is not present in gnomAD. D629E has been functionally characterized in 0 papers. Other variants at the same resdue are D629A .D629E .D629E .D629G .D629H .D629N .D629V .D629Y .
This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
D629E 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 |
0.518 |
D629E 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 |
614 |
14.7 |
|
615 |
14.2 |
G615E |
616 |
13.7 |
|
617 |
13.2 |
|
618 |
12.6 |
L618F |
619 |
12 |
L619F |
620 |
11.4 |
R620C R620H |
621 |
10.7 |
|
622 |
10.1 |
|
623 |
9.3 |
|
624 |
8.5 |
L624Q |
625 |
7.6 |
E625D E625D |
626 |
6.6 |
|
627 |
5.4 |
P627L |
628 |
3.8 |
|
630 |
3.8 |
T630M |
631 |
5.4 |
|
632 |
6.6 |
T632M |
633 |
7.6 |
|
634 |
8.5 |
S634L |
635 |
9.3 |
|
636 |
10.1 |
|
637 |
10.7 |
|
638 |
11.4 |
|
639 |
12 |
G639R G639R |
640 |
12.6 |
P640A |
641 |
13.2 |
|
642 |
13.7 |
|
643 |
14.2 |
|
644 |
14.7 |
|