A1125S Summary

SCN5A A1125S was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A1125S is not present in gnomAD. A1125S has been functionally characterized in 0 papers. Other variants at the same resdue are A1125D .A1125G .A1125P .A1125S .A1125T .A1125V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

A1125S 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 0.48

A1125S 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
1110 14.7
1111 14.2
1112 13.7
1113 13.2 A1113V
1114 12.6 D1114E D1114E D1114N
1115 12
1116 11.4 R1116Q R1116W
1117 10.7
1118 10.1
1119 9.3
1120 8.5
1121 7.6 A1121V
1122 6.6
1123 5.4
1124 3.8
1126 3.8
1127 5.4
1128 6.6
1129 7.6 G1129S
1130 8.5
1131 9.3 T1131I
1132 10.1
1133 10.7
1134 11.4
1135 12 S1135I
1136 12.6
1137 13.2
1138 13.7
1139 14.2
1140 14.7