S42G Summary

SCN5A S42G was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. S42G is not present in gnomAD. S42G has been functionally characterized in 0 papers. Other variants at the same resdue are S42C .S42G .S42I .S42N .S42R .S42R .S42R .S42T . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

S42G 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 0.22

S42G 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
27 14.7 R27C R27H R27L
28 14.2 M28I M28I M28I M28L M28L
29 13.7 A29V
30 13.2
31 12.6
32 12
33 11.4
34 10.7 R34C R34H
35 10.1 G35S
36 9.3
37 8.5 T37A
38 7.6
39 6.6
40 5.4
41 3.8
43 3.8 R43Q
44 5.4
45 6.6
46 7.6
47 8.5
48 9.3 E48K
49 10.1
50 10.7
51 11.4 A51V
52 12 P52S
53 12.6 R53Q
54 13.2
55 13.7
56 14.2
57 14.7