C1128S Summary

SCN5A C1128S was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. C1128S is not present in gnomAD. C1128S has been functionally characterized in 0 papers. Other variants at the same resdue are C1128F .C1128G .C1128R .C1128S .C1128S .C1128W .C1128Y . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

C1128S 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 0.407

C1128S 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
1113 14.7 A1113V
1114 14.2 D1114E D1114E D1114N
1115 13.7
1116 13.2 R1116Q R1116W
1117 12.6
1118 12
1119 11.4
1120 10.7
1121 10.1 A1121V
1122 9.3
1123 8.5
1124 7.6
1125 6.6 A1125G A1125V
1126 5.4
1127 3.8
1129 3.8 G1129S
1130 5.4
1131 6.6 T1131I
1132 7.6
1133 8.5
1134 9.3
1135 10.1 S1135I
1136 10.7
1137 11.4
1138 12
1139 12.6
1140 13.2
1141 13.7
1142 14.2
1143 14.7