D542G Summary

SCN5A D542G was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D542G is not present in gnomAD. D542G has been functionally characterized in 0 papers. Other variants at the same resdue are D542A .D542E .D542E .D542G .D542H .D542N .D542V .D542Y . This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

D542G 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 0.733

D542G 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
527 14.7 G527R G527R
528 14.2 S528R S528R S528R
529 13.7
530 13.2 F530V
531 12.6 T531A
532 12 F532C F532L F532L F532L
533 11.4 R533C R533H R533S
534 10.7
535 10.1 R535Q
536 9.3 D536H
537 8.5
538 7.6
539 6.6
540 5.4
541 3.8
543 3.8
544 5.4
545 6.6
546 7.6
547 8.5
548 9.3
549 10.1
550 10.7
551 11.4 A551T A551V
552 12 G552R G552R G552W
553 12.6
554 13.2
555 13.7 E555K
556 14.2
557 14.7 H557Y