C915S Summary
SCN5A C915S was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. C915S is not present in gnomAD. C915S has been functionally characterized in 0 papers. Other variants at the same resdue are C915F .C915G .C915R .C915S .C915S .C915W .C915Y .
This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
C915S 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 |
0.889 |
C915S has 55 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 |
| 220 |
13.5 |
T220I |
| 350 |
12.8 |
|
| 351 |
14.9 |
G351S G351V |
| 352 |
11.6 |
|
| 359 |
14.6 |
|
| 360 |
12.8 |
|
| 363 |
11.8 |
|
| 366 |
14.6 |
|
| 367 |
14.9 |
R367C R367H |
| 853 |
12.2 |
|
| 854 |
13 |
|
| 855 |
14.7 |
|
| 856 |
11.2 |
|
| 857 |
9.2 |
G857D |
| 858 |
13.5 |
M858L M858L |
| 859 |
13.3 |
|
| 860 |
8.3 |
|
| 861 |
6.1 |
|
| 862 |
10.9 |
|
| 863 |
13.6 |
|
| 864 |
10.5 |
|
| 865 |
10.7 |
|
| 868 |
14.5 |
|
| 877 |
14.7 |
|
| 880 |
14.1 |
|
| 881 |
9.9 |
|
| 887 |
13.2 |
|
| 890 |
11.3 |
I890T |
| 891 |
11.9 |
|
| 893 |
14.1 |
R893C R893H |
| 894 |
11.6 |
|
| 899 |
10.6 |
|
| 900 |
10.6 |
|
| 901 |
12.4 |
E901K |
| 902 |
8.3 |
|
| 903 |
5.8 |
|
| 904 |
9.3 |
|
| 905 |
9.3 |
|
| 906 |
4.4 |
|
| 907 |
4.9 |
|
| 908 |
10 |
|
| 909 |
8.9 |
|
| 910 |
6.5 |
S910L |
| 911 |
7.2 |
|
| 912 |
7.2 |
Q912R |
| 913 |
5.6 |
|
| 914 |
4.7 |
|
| 916 |
5.3 |
|
| 917 |
6.9 |
|
| 918 |
5.8 |
|
| 919 |
5.5 |
|
| 920 |
9.1 |
|
| 921 |
10.6 |
|
| 922 |
11.1 |
|
| 923 |
12.9 |
|