E1230D Summary

SCN5A E1230D was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. E1230D is not present in gnomAD. E1230D has been functionally characterized in 0 papers. Other variants at the same resdue are E1230A .E1230D .E1230D .E1230G .E1230K .E1230Q .E1230V . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

E1230D 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 0.611

E1230D has 22 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
1224 13.7
1225 9.9 E1225K
1226 10.3
1227 8.6
1228 8.9 Y1228C Y1228H
1229 4.5
1231 5.8 E1231K
1232 9.1 R1232Q R1232W
1233 5.3
1234 9.6
1235 8.5
1236 6 K1236R
1237 10.7
1238 12.9
1239 11.6 L1239P
1240 12.2 E1240Q
1680 13.9 A1680T
1681 12 Y1681F
1695 13.2
1696 14.4
1736 15
1738 14.3