E446Q Summary

SCN5A E446Q was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. E446Q is not present in gnomAD. E446Q has been functionally characterized in 0 papers. Other variants at the same resdue are E446A .E446D .E446D .E446G .E446K .E446Q .E446V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

E446Q 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 0.484

E446Q has 30 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
431 14.7
432 14.2
433 13.7 R433C
434 13.2
435 12.6
436 12
437 11.4
438 10.7
439 10.1
440 9.3
441 8.5
442 7.6
443 6.6
444 5.4
445 3.8 H445D
447 3.8 A447G
448 5.4
449 6.6 T449A
450 7.6
451 8.5
452 9.3
453 10.1 V453M
454 10.7
455 11.4
456 12 V456M
457 12.6
458 13.2 R458C R458H
459 13.7
460 14.2
461 14.7 L461V