E1253V Summary

SCN5A E1253V was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. E1253V is not present in gnomAD. E1253V has been functionally characterized in 0 papers. Other variants at the same resdue are E1253A .E1253D .E1253D .E1253G .E1253K .E1253Q .E1253V . This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

E1253V 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 0.984

E1253V has 54 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 13.4
1207 9
1208 10.3 E1208K
1209 12.4
1210 10.2 F1210S
1211 6.6
1212 11 p.I1212del
1213 13.3
1214 9.1
1215 10.1 I1215V
1216 14.4
1217 14.7
1218 13.6 S1218I
1242 14.6
1243 14.7 D1243N
1245 12.2 M1245I M1245I M1245I
1246 9.8
1247 9.9 T1247I
1248 11.1
1249 5.7
1250 5.4
1251 6.6 V1251M
1252 5.1
1254 4.9
1255 7.7
1256 6.3
1257 5.7
1258 9
1259 11.6
1260 11.4
1261 11.9
1262 13.4 G1262S
1266 10.2
1267 13.6
1269 14.4 N1269S
1271 14
1272 10.3
1273 14.2
1274 12.1
1275 7.7 D1275N
1276 11.2
1277 13.3
1278 10.3 I1278N
1279 8.9 V1279I
1280 12.7
1281 14.1 V1281F
1282 11.9
1283 13
1306 11.5 R1306H
1308 15 L1308F
1309 8.7 R1309H
1310 13.9
1312 13.7
1313 14.3