D596G Summary

SCN5A D596G was found in 1 paper (see below) with a total of 1 carrier: 0 had BrS1, 0 had LQT3, and 0 had other disease. D596G is not present in gnomAD. D596G 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.

D596G Reported Clinical Data

PMID Year Unaffected BrS LQT3 Other Other disease
2012928320101000
Summary totals might not agree with the literature table because of duplicate patients, which were excluded from the total counts.

D596G 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
Damaging 0.041 -4.75 probablydamaging 0.997 2.308 -0.11 -3 0.741

D596G 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