E1203A Summary

SCN5A E1203A was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. E1203A is not present in gnomAD. E1203A has been functionally characterized in 0 papers. Other variants at the same resdue are E1203A .E1203D .E1203D .E1203G .E1203K .E1203Q .E1203V . This residue is located in a Mild_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

E1203A 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 0.884

E1203A 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
1188 14.7
1189 14.2
1190 13.7 V1190F
1191 13.2
1192 12.6
1193 12 R1193Q R1193W
1194 11.4
1195 10.7 R1195H
1196 10.1
1197 9.3
1198 8.5
1199 7.6
1200 6.6
1201 5.4
1202 3.8 V1202M
1204 3.8
1205 5.4
1206 6.6
1207 7.6
1208 8.5 E1208K
1209 9.3
1210 10.1 F1210S
1211 10.7
1212 11.4 p.I1212del
1213 12
1214 12.6
1215 13.2 I1215V
1216 13.7
1217 14.2
1218 14.7 S1218I