E1225Q Summary

SCN5A E1225Q was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. E1225Q is not present in gnomAD. E1225Q has been functionally characterized in 0 papers. Other variants at the same resdue are E1225A .E1225D .E1225D .E1225G .E1225K .E1225Q .E1225V .G1225K . This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

E1225Q 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 0.954

E1225Q has 56 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
1217 13.8
1218 10.9 S1218I
1219 10.4
1220 9.5
1221 7.2 A1221V
1222 5.7
1223 6.7
1224 7.2
1226 4.2
1227 8
1228 8.9 Y1228C Y1228H
1229 5.5
1230 9.9 E1230K
1231 11.5 E1231K
1232 14.5 R1232Q R1232W
1233 12.1
1234 11.5
1235 7.1
1236 8.4 K1236R
1237 11.2
1238 10.5
1239 6.1 L1239P
1240 9.2 E1240Q
1241 14
1242 11
1243 11.1 D1243N
1246 14.3
1285 14.7
1299 13.1
1300 12.6
1301 9.2
1302 13
1303 8.1 R1303Q
1304 10 T1304M
1305 14.2
1306 12 R1306H
1307 12.7
1669 12.5
1670 14.3
1672 11.3 S1672Y
1673 8.4
1674 12.8 F1674V
1675 11.8
1676 8.4 M1676I M1676I M1676I
1677 9.1
1678 12.9 N1678S
1679 14.1
1680 11.9 A1680T
1681 13.4 Y1681F
1694 13.7
1695 11.8
1696 10.1
1697 10.3
1698 13.5 A1698T
1699 14.7
1700 13.5