A1186V Summary

SCN5A A1186V was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A1186V is not present in gnomAD. A1186V has been functionally characterized in 0 papers. Other variants at the same resdue are A1186D .A1186G .A1186P .A1186S .A1186T .A1186V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

A1186V 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 0.355

A1186V 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
1171 14.7
1172 14.2
1173 13.7
1174 13.2 R1174W
1175 12.6 R1175H
1176 12
1177 11.4 P1177L
1178 10.7
1179 10.1
1180 9.3 A1180V
1181 8.5 V1181A V1181L V1181L
1182 7.6
1183 6.6
1184 5.4
1185 3.8
1187 3.8 P1187Q
1188 5.4
1189 6.6
1190 7.6 V1190F
1191 8.5
1192 9.3
1193 10.1 R1193Q R1193W
1194 10.7
1195 11.4 R1195H
1196 12
1197 12.6
1198 13.2
1199 13.7
1200 14.2
1201 14.7