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 |
|