D498A Summary

SCN5A D498A was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D498A is not present in gnomAD. D498A has been functionally characterized in 0 papers. Other variants at the same resdue are D498A .D498E .D498E .D498G .D498H .D498N .D498V .D498Y . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

D498A 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 0.407

D498A 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
483 14.7
484 14.2
485 13.7
486 13.2
487 12.6
488 12
489 11.4
490 10.7
491 10.1
492 9.3
493 8.5 R493K
494 7.6
495 6.6
496 5.4
497 3.8
499 3.8
500 5.4
501 6.6
502 7.6
503 8.5
504 9.3 R504T
505 10.1
506 10.7 M506K
507 11.4
508 12
509 12.6
510 13.2
511 13.7
512 14.2 T512I
513 14.7 R513C