D1134Y Summary

SCN5A D1134Y was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D1134Y is not present in gnomAD. D1134Y has been functionally characterized in 0 papers. Other variants at the same resdue are D1134A .D1134E .D1134E .D1134G .D1134H .D1134N .D1134V .D1134Y . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

D1134Y 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 0.671

D1134Y 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
1119 14.7
1120 14.2
1121 13.7 A1121V
1122 13.2
1123 12.6
1124 12
1125 11.4 A1125G A1125V
1126 10.7
1127 10.1
1128 9.3
1129 8.5 G1129S
1130 7.6
1131 6.6 T1131I
1132 5.4
1133 3.8
1135 3.8 S1135I
1136 5.4
1137 6.6
1138 7.6
1139 8.5
1140 9.3
1141 10.1
1142 10.7
1143 11.4
1144 12
1145 12.6
1146 13.2
1147 13.7 T1147N T1147S T1147S
1148 14.2 A1148T
1149 14.7