E1208V Summary

SCN5A E1208V was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. E1208V is not present in gnomAD. E1208V has been functionally characterized in 0 papers. Other variants at the same resdue are E1208A .E1208D .E1208D .E1208G .E1208K .E1208Q .E1208V . This residue is located in a Non_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

E1208V 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 0.957

E1208V has 32 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
1206 7.6
1207 4.1
1209 5.1
1210 8.5 F1210S
1211 6.4
1212 7.3 p.I1212del
1213 11.5
1214 11.1
1215 11.6 I1215V
1216 13.4
1249 13.9
1250 14.3
1252 13.6
1253 10.3
1254 13.9
1256 11.7
1257 9.9
1260 12.6
1261 12
1266 14.4
1271 14
1272 13.2
1275 13.3 D1275N
1309 11.9 R1309H
1310 13.5
1312 10.5
1313 10
1314 14.3
1315 13.2
1316 7.9 R1316Q
1317 14 F1317C
1321 14.7