D785Y Summary
SCN5A D785Y was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D785Y is not present in gnomAD. D785Y has been functionally characterized in 0 papers. Other variants at the same resdue are D785A .D785E .D785E .D785G .D785H .D785N .D785V .D785Y .
This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
D785Y 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 |
0.972 |
D785Y has 56 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 |
| 714 |
13.4 |
V714A |
| 719 |
13.4 |
|
| 720 |
11.2 |
|
| 722 |
14.4 |
|
| 723 |
10 |
I723V |
| 724 |
12.4 |
T724I |
| 726 |
13.2 |
|
| 727 |
10.9 |
|
| 730 |
13.7 |
|
| 756 |
14 |
|
| 757 |
11.8 |
|
| 758 |
12.7 |
|
| 759 |
12.1 |
I759V |
| 760 |
8.1 |
|
| 761 |
9.9 |
|
| 762 |
11.3 |
|
| 763 |
9.8 |
E763K |
| 764 |
5.9 |
M764K |
| 765 |
11.1 |
|
| 766 |
13.4 |
|
| 767 |
9 |
|
| 768 |
10.5 |
|
| 769 |
14.6 |
|
| 770 |
14.6 |
|
| 771 |
12.8 |
|
| 773 |
13.6 |
|
| 776 |
8.5 |
|
| 777 |
9.9 |
|
| 778 |
13.7 |
|
| 779 |
10.3 |
Q779K |
| 780 |
8 |
|
| 781 |
6.9 |
|
| 782 |
5.6 |
|
| 783 |
6.8 |
|
| 784 |
4.3 |
|
| 786 |
5.1 |
|
| 787 |
6.5 |
|
| 788 |
5.2 |
|
| 789 |
6.9 |
V789I |
| 790 |
9.5 |
|
| 791 |
10.6 |
|
| 792 |
10.8 |
|
| 793 |
12.9 |
|
| 794 |
14.6 |
|
| 810 |
13.1 |
|
| 811 |
14 |
R811H |
| 812 |
13.5 |
|
| 813 |
9.2 |
|
| 814 |
8.6 |
R814Q |
| 815 |
11.5 |
|
| 816 |
10.8 |
F816Y |
| 817 |
6.3 |
|
| 818 |
11.5 |
|
| 819 |
11.7 |
|
| 820 |
9.6 |
|
| 821 |
12.7 |
|