C683S Summary
SCN5A C683S was found in 0 papers (see below) with a total of 1 carrier: 0 had BrS1, 0 had LQT3, and 0 had other disease. C683S is present in 1 out of 248006 alleles in gnomAD (minor allele frequency of 0.000403%). C683S has been functionally characterized in 0 papers. Other variants at the same resdue are C683F .C683G .C683R .C683S .C683S .C683W .C683Y .
This residue is located in a Mild_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.
C683S 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 |
Damaging |
0 |
-9.52 |
benign |
0.085 |
1.396 |
-1.33 |
-3 |
0.844 |
C683S 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 |
668 |
14.7 |
V668I |
669 |
14.2 |
|
670 |
13.7 |
|
671 |
13.2 |
|
672 |
12.6 |
A672T |
673 |
12 |
|
674 |
11.4 |
|
675 |
10.7 |
|
676 |
10.1 |
|
677 |
9.3 |
|
678 |
8.5 |
|
679 |
7.6 |
|
680 |
6.6 |
R680C |
681 |
5.4 |
|
682 |
3.8 |
|
684 |
3.8 |
|
685 |
5.4 |
|
686 |
6.6 |
|
687 |
7.6 |
|
688 |
8.5 |
|
689 |
9.3 |
R689C R689H |
690 |
10.1 |
|
691 |
10.7 |
A691S A691T |
692 |
11.4 |
Q692K |
693 |
12 |
R693C R693H |
694 |
12.6 |
Y694C |
695 |
13.2 |
|
696 |
13.7 |
|
697 |
14.2 |
|
698 |
14.7 |
|