E1295Q Summary

SCN5A E1295Q was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. E1295Q is not present in gnomAD. E1295Q has been functionally characterized in 0 papers. Other variants at the same resdue are E1295A .E1295D .E1295D .E1295G .E1295K .E1295Q .E1295V . This residue is located in a Non_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

E1295Q 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 0.696

E1295Q has 16 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
1284 13.6
1285 13.7
1287 11.8
1288 9.1
1289 11.4
1290 9.4
1291 5
1292 5.5
1293 7.7 F1293S
1294 4.8 A1294G
1296 5.2
1297 5.3
1298 8.5 P1298L
1299 10.9
1300 14.2
1734 13.8