D545G Summary

SCN5A D545G was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D545G is not present in gnomAD. D545G has been functionally characterized in 0 papers. Other variants at the same resdue are D545A .D545E .D545E .D545G .D545H .D545N .D545V .D545Y . This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

D545G 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 0.805

D545G 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
530 14.7 F530V
531 14.2 T531A
532 13.7 F532C F532L F532L F532L
533 13.2 R533C R533H R533S
534 12.6
535 12 R535Q
536 11.4 D536H
537 10.7
538 10.1
539 9.3
540 8.5
541 7.6
542 6.6
543 5.4
544 3.8
546 3.8
547 5.4
548 6.6
549 7.6
550 8.5
551 9.3 A551T A551V
552 10.1 G552R G552R G552W
553 10.7
554 11.4
555 12 E555K
556 12.6
557 13.2 H557Y
558 13.7 H558R
559 14.2 T559I
560 14.7