D720E Summary
SCN5A D720E was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D720E is not present in gnomAD. D720E has been functionally characterized in 0 papers. Other variants at the same resdue are D720A .D720E .D720E .D720G .D720H .D720N .D720V .D720Y .
This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
D720E 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 |
0.705 |
D720E has 49 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 |
710 |
12.5 |
|
711 |
13.5 |
|
712 |
12.9 |
|
713 |
9.1 |
|
714 |
7.5 |
V714A |
715 |
10.5 |
|
716 |
7 |
|
717 |
7.2 |
P717L |
718 |
7.9 |
|
719 |
4.3 |
|
721 |
5.7 |
|
722 |
6.5 |
|
723 |
5 |
I723V |
724 |
6.6 |
T724I |
725 |
9.4 |
|
726 |
10.1 |
|
727 |
10.2 |
|
728 |
12.9 |
V728I |
729 |
14.7 |
|
756 |
14.6 |
|
759 |
12.1 |
I759V |
760 |
11.2 |
|
761 |
14.6 |
|
762 |
12.7 |
|
763 |
8.6 |
E763K |
764 |
10.5 |
M764K |
765 |
14.5 |
|
766 |
13 |
|
767 |
8.9 |
|
768 |
14.7 |
|
770 |
13.9 |
|
771 |
13.2 |
|
776 |
13.5 |
|
779 |
14.2 |
Q779K |
780 |
14.9 |
|
781 |
11.6 |
|
782 |
11.6 |
|
784 |
13.9 |
|
785 |
11.2 |
D785N |
788 |
15 |
|
814 |
14.5 |
R814Q |
817 |
9 |
|
818 |
11.2 |
|
819 |
12.6 |
|
820 |
8.5 |
|
821 |
8.8 |
|
822 |
13.1 |
|
823 |
14 |
|
826 |
14.5 |
|