E337D Summary

SCN5A E337D was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. E337D is not present in gnomAD. E337D has been functionally characterized in 0 papers. Other variants at the same resdue are E337A .E337D .E337D .E337G .E337K .E337Q .E337V . This residue is located in a Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

E337D 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 0.529

E337D has 18 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
280 11.8
281 12.5 V281M
282 10.3 R282C R282H
283 10.7
284 11.3
285 14.2
286 13.9 A286S A286V
326 12.7
327 14
328 14.8
333 14.1
334 11.1
335 7.7 C335R
336 5.9 P336L
338 4.9
339 6.7
340 10.6 R340Q R340W
341 13.3 C341Y