D1163A Summary

SCN5A D1163A was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D1163A is not present in gnomAD. D1163A has been functionally characterized in 0 papers. Other variants at the same resdue are D1163A .D1163E .D1163E .D1163G .D1163H .D1163N .D1163V .D1163Y . This residue is located in a Non_Hotspot region for BrS1 and in a Hotspot region for Long QT syndrome.

D1163A 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 0.613

D1163A 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
1148 14.7 A1148T
1149 14.2
1150 13.7
1151 13.2
1152 12.6
1153 12 Q1153H Q1153H
1154 11.4 I1154N
1155 10.7 P1155S
1156 10.1 D1156G
1157 9.3
1158 8.5 G1158S
1159 7.6
1160 6.6
1161 5.4
1162 3.8
1164 3.8 P1164T
1165 5.4
1166 6.6
1167 7.6
1168 8.5
1169 9.3 T1169I
1170 10.1
1171 10.7
1172 11.4
1173 12
1174 12.6 R1174W
1175 13.2 R1175H
1176 13.7
1177 14.2 P1177L
1178 14.7