C896R Summary
SCN5A C896R was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. C896R is not present in gnomAD. C896R has been functionally characterized in 0 papers. Other variants at the same resdue are C896F .C896G .C896R .C896S .C896S .C896W .C896Y .
This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
C896R 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 |
0.917 |
C896R has 80 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 |
| 367 |
14.8 |
R367C R367H |
| 370 |
11.5 |
T370M |
| 371 |
12.6 |
Q371E |
| 372 |
10.6 |
|
| 373 |
12.3 |
|
| 405 |
14.2 |
|
| 843 |
14.1 |
|
| 846 |
10.9 |
|
| 847 |
13.2 |
|
| 849 |
13.6 |
|
| 850 |
11.1 |
V850M |
| 853 |
13.3 |
|
| 854 |
14.8 |
|
| 879 |
13.2 |
W879R W879R |
| 887 |
13.9 |
|
| 888 |
11.1 |
|
| 889 |
10.4 |
|
| 890 |
10.6 |
I890T |
| 891 |
9.2 |
|
| 892 |
5.7 |
F892I |
| 893 |
6.8 |
R893C R893H |
| 894 |
6.5 |
|
| 895 |
4.2 |
|
| 897 |
4.7 |
|
| 898 |
6.5 |
|
| 899 |
10.5 |
|
| 900 |
13.1 |
|
| 901 |
13.4 |
E901K |
| 902 |
12.5 |
|
| 903 |
15 |
|
| 919 |
12.8 |
|
| 920 |
14.4 |
|
| 921 |
15 |
|
| 922 |
10.2 |
|
| 923 |
8.7 |
|
| 924 |
13 |
V924I |
| 925 |
13 |
|
| 926 |
9.1 |
|
| 927 |
7.3 |
N927S |
| 928 |
11.4 |
|
| 929 |
13.3 |
|
| 930 |
11.2 |
|
| 931 |
8 |
|
| 932 |
12 |
|
| 933 |
14.8 |
|
| 934 |
12.6 |
|
| 935 |
13.6 |
|
| 1412 |
14.7 |
|
| 1413 |
14.6 |
|
| 1414 |
13.3 |
|
| 1415 |
9.8 |
|
| 1416 |
9.3 |
|
| 1417 |
9.7 |
|
| 1418 |
5.4 |
|
| 1419 |
10.3 |
|
| 1420 |
12.4 |
G1420R G1420V |
| 1421 |
8.1 |
|
| 1422 |
10.4 |
|
| 1424 |
14.7 |
|
| 1425 |
12.3 |
|
| 1447 |
13.8 |
|
| 1448 |
14.5 |
I1448L |
| 1450 |
11.9 |
|
| 1451 |
10.1 |
|
| 1452 |
13.5 |
|
| 1453 |
11.8 |
|
| 1454 |
7.6 |
|
| 1455 |
10.1 |
|
| 1456 |
14 |
|
| 1457 |
11.2 |
|
| 1458 |
8 |
|
| 1459 |
7.2 |
|
| 1460 |
14.4 |
|
| 1461 |
14.2 |
T1461S T1461S |
| 1462 |
11.4 |
|
| 1463 |
11.7 |
|
| 1709 |
14.9 |
T1709M |
| 1710 |
12.5 |
S1710L |
| 1711 |
14.4 |
|
| 1760 |
13.9 |
|