G538D Summary

SCN5A G538D was found in 0 papers (see below) with a total of 1 carrier: 0 had BrS1, 0 had LQT3, and 0 had other disease. G538D is present in 1 out of 248560 alleles in gnomAD (minor allele frequency of 0.000402%). G538D has been functionally characterized in 0 papers. Other variants at the same resdue are G538A .G538C .G538D .G538R .G538S .G538V . This residue is located in a Non_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

G538D 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
Tolerated 0.058 -4.4 possiblydamaging 0.767 1.758 -0.5 -3 0.581

G538D 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
523 14.7 R523C R523H
524 14.2 S524Y
525 13.7
526 13.2 R526C R526H
527 12.6 G527R G527R
528 12 S528R S528R S528R
529 11.4
530 10.7 F530V
531 10.1 T531A
532 9.3 F532C F532L F532L F532L
533 8.5 R533C R533H R533S
534 7.6
535 6.6 R535Q
536 5.4 D536H
537 3.8
539 3.8
540 5.4
541 6.6
542 7.6
543 8.5
544 9.3
545 10.1
546 10.7
547 11.4
548 12
549 12.6
550 13.2
551 13.7 A551T A551V
552 14.2 G552R G552R G552W
553 14.7