D331G Summary

SCN5A D331G was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D331G is not present in gnomAD. D331G has been functionally characterized in 0 papers. Other variants at the same resdue are D331A .D331E .D331E .D331G .D331H .D331N .D331V .D331Y . This residue is located in a Mild_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

D331G 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 0.567

D331G has 43 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
325 14.2
326 11.8
327 10.4
328 10.1
329 6.4
330 3.8
332 5.1 A332T
333 6.5
334 8.4
335 12.3 C335R
378 13.3
379 13.5
381 12.9
382 9.2
383 10.3
384 11.2
385 9.8 A385T
386 7.6 G386E G386R G386R
387 5.4
388 9.1
389 11.7
390 11.9
391 14.9
1224 14.1
1227 13.6
1228 11 Y1228C Y1228H
1231 14.9 E1231K
1688 14.9
1689 11.8
1690 10.7 D1690N
1691 7.1
1692 10.1
1693 10.5
1694 14.5
1695 11.5
1696 9.3
1697 10.5
1698 8.3 A1698T
1699 7.9
1700 12.4
1701 12.9 M1701I M1701I M1701I
1702 10.2
1703 13.6