C981S Summary
SCN5A C981S was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. C981S is not present in gnomAD. C981S has been functionally characterized in 0 papers. Other variants at the same resdue are C981A .C981F .C981G .C981R .C981S .C981S .C981W .C981Y .
This residue is located in a Non_Hotspot region for BrS1 and in a Hotspot region for Long QT syndrome.
C981S 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 |
0.756 |
C981S 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 |
966 |
14.7 |
|
967 |
14.2 |
|
968 |
13.7 |
|
969 |
13.2 |
G969C |
970 |
12.6 |
|
971 |
12 |
R971C R971H |
972 |
11.4 |
|
973 |
10.7 |
|
974 |
10.1 |
|
975 |
9.3 |
R975Q R975W |
976 |
8.5 |
|
977 |
7.6 |
|
978 |
6.6 |
|
979 |
5.4 |
|
980 |
3.8 |
|
982 |
3.8 |
C982R |
983 |
5.4 |
G983D |
984 |
6.6 |
|
985 |
7.6 |
|
986 |
8.5 |
R986L R986Q R986W |
987 |
9.3 |
|
988 |
10.1 |
R988Q R988W |
989 |
10.7 |
|
990 |
11.4 |
|
991 |
12 |
|
992 |
12.6 |
|
993 |
13.2 |
A993T |
994 |
13.7 |
|
995 |
14.2 |
L995F |
996 |
14.7 |
|