A1148G Summary

SCN5A A1148G was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A1148G is not present in gnomAD. A1148G has been functionally characterized in 0 papers. Other variants at the same resdue are A1148D .A1148G .A1148P .A1148S .A1148T .A1148V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

A1148G 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 0.211

A1148G 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
1133 14.7
1134 14.2
1135 13.7 S1135I
1136 13.2
1137 12.6
1138 12
1139 11.4
1140 10.7
1141 10.1
1142 9.3
1143 8.5
1144 7.6
1145 6.6
1146 5.4
1147 3.8 T1147N T1147S T1147S
1149 3.8
1150 5.4
1151 6.6
1152 7.6
1153 8.5 Q1153H Q1153H
1154 9.3 I1154N
1155 10.1 P1155S
1156 10.7 D1156G
1157 11.4
1158 12 G1158S
1159 12.6
1160 13.2
1161 13.7
1162 14.2
1163 14.7