C1198W Summary
SCN5A C1198W was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. C1198W is not present in gnomAD. C1198W has been functionally characterized in 0 papers. Other variants at the same resdue are C1198F .C1198G .C1198R .C1198S .C1198S .C1198W .C1198Y .
This residue is located in a Mild_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.
C1198W 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 |
0.837 |
C1198W 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 |
1183 |
14.7 |
|
1184 |
14.2 |
|
1185 |
13.7 |
|
1186 |
13.2 |
A1186T |
1187 |
12.6 |
P1187Q |
1188 |
12 |
|
1189 |
11.4 |
|
1190 |
10.7 |
V1190F |
1191 |
10.1 |
|
1192 |
9.3 |
|
1193 |
8.5 |
R1193Q R1193W |
1194 |
7.6 |
|
1195 |
6.6 |
R1195H |
1196 |
5.4 |
|
1197 |
3.8 |
|
1199 |
3.8 |
|
1200 |
5.4 |
|
1201 |
6.6 |
|
1202 |
7.6 |
V1202M |
1203 |
8.5 |
|
1204 |
9.3 |
|
1205 |
10.1 |
|
1206 |
10.7 |
|
1207 |
11.4 |
|
1208 |
12 |
E1208K |
1209 |
12.6 |
|
1210 |
13.2 |
F1210S |
1211 |
13.7 |
|
1212 |
14.2 |
p.I1212del |
1213 |
14.7 |
|