D1166Y Summary

SCN5A D1166Y was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D1166Y is not present in gnomAD. D1166Y has been functionally characterized in 0 papers. Other variants at the same resdue are D1166A .D1166E .D1166E .D1166G .D1166H .D1166N .D1166V .D1166Y . This residue is located in a Non_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

D1166Y 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 0.604

D1166Y 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
1151 14.7
1152 14.2
1153 13.7 Q1153H Q1153H
1154 13.2 I1154N
1155 12.6 P1155S
1156 12 D1156G
1157 11.4
1158 10.7 G1158S
1159 10.1
1160 9.3
1161 8.5
1162 7.6
1163 6.6
1164 5.4 P1164T
1165 3.8
1167 3.8
1168 5.4
1169 6.6 T1169I
1170 7.6
1171 8.5
1172 9.3
1173 10.1
1174 10.7 R1174W
1175 11.4 R1175H
1176 12
1177 12.6 P1177L
1178 13.2
1179 13.7
1180 14.2 A1180V
1181 14.7 V1181A V1181L V1181L