C1178F Summary

SCN5A C1178F was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. C1178F is not present in gnomAD. C1178F has been functionally characterized in 0 papers. Other variants at the same resdue are C1178F .C1178G .C1178R .C1178S .C1178S .C1178W .C1178Y . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

C1178F 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 0.663

C1178F 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
1163 14.7
1164 14.2 P1164T
1165 13.7
1166 13.2
1167 12.6
1168 12
1169 11.4 T1169I
1170 10.7
1171 10.1
1172 9.3
1173 8.5
1174 7.6 R1174W
1175 6.6 R1175H
1176 5.4
1177 3.8 P1177L
1179 3.8
1180 5.4 A1180V
1181 6.6 V1181A V1181L V1181L
1182 7.6
1183 8.5
1184 9.3
1185 10.1
1186 10.7 A1186T
1187 11.4 P1187Q
1188 12
1189 12.6
1190 13.2 V1190F
1191 13.7
1192 14.2
1193 14.7 R1193Q R1193W