D596V Summary

SCN5A D596V was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D596V is not present in gnomAD. D596V has been functionally characterized in 0 papers. Other variants at the same resdue are D596A .D596E .D596E .D596G .D596H .D596N .D596V .D596Y . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

D596V 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 0.814

D596V 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
581 14.7 S581L
582 14.2
583 13.7
584 13.2 G584R
585 12.6
586 12 A586T
587 11.4
588 10.7
589 10.1
590 9.3
591 8.5
592 7.6 N592K N592K N592S
593 6.6
594 5.4
595 3.8
597 3.8
598 5.4
599 6.6 G599R G599R
600 7.6
601 8.5
602 9.3
603 10.1
604 10.7 L604V
605 11.4
606 12
607 12.6 G607V
608 13.2 D608N
609 13.7
610 14.2
611 14.7