C1176S Summary

SCN5A C1176S was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. C1176S is not present in gnomAD. C1176S has been functionally characterized in 0 papers. Other variants at the same resdue are C1176F .C1176G .C1176R .C1176S .C1176S .C1176W .C1176Y . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

C1176S 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 0.713

C1176S 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
1161 14.7
1162 14.2
1163 13.7
1164 13.2 P1164T
1165 12.6
1166 12
1167 11.4
1168 10.7
1169 10.1 T1169I
1170 9.3
1171 8.5
1172 7.6
1173 6.6
1174 5.4 R1174W
1175 3.8 R1175H
1177 3.8 P1177L
1178 5.4
1179 6.6
1180 7.6 A1180V
1181 8.5 V1181A V1181L V1181L
1182 9.3
1183 10.1
1184 10.7
1185 11.4
1186 12 A1186T
1187 12.6 P1187Q
1188 13.2
1189 13.7
1190 14.2 V1190F
1191 14.7