A1142V Summary

SCN5A A1142V was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A1142V is not present in gnomAD. A1142V has been functionally characterized in 0 papers. Other variants at the same resdue are A1142E .A1142G .A1142P .A1142S .A1142T .A1142V . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

A1142V 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 0.375

A1142V 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
1127 14.7
1128 14.2
1129 13.7 G1129S
1130 13.2
1131 12.6 T1131I
1132 12
1133 11.4
1134 10.7
1135 10.1 S1135I
1136 9.3
1137 8.5
1138 7.6
1139 6.6
1140 5.4
1141 3.8
1143 3.8
1144 5.4
1145 6.6
1146 7.6
1147 8.5 T1147N T1147S T1147S
1148 9.3 A1148T
1149 10.1
1150 10.7
1151 11.4
1152 12
1153 12.6 Q1153H Q1153H
1154 13.2 I1154N
1155 13.7 P1155S
1156 14.2 D1156G
1157 14.7