Q40R Summary

SCN5A Q40R was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. Q40R is not present in gnomAD. Q40R has been functionally characterized in 0 papers. Other variants at the same resdue are Q40E .Q40H .Q40H .Q40K .Q40L .Q40P .Q40R . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

Q40R 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 0.188

Q40R 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
25 14.7 E25K
26 14.2
27 13.7 R27C R27H R27L
28 13.2 M28I M28I M28I M28L M28L
29 12.6 A29V
30 12
31 11.4
32 10.7
33 10.1
34 9.3 R34C R34H
35 8.5 G35S
36 7.6
37 6.6 T37A
38 5.4
39 3.8
41 3.8
42 5.4
43 6.6 R43Q
44 7.6
45 8.5
46 9.3
47 10.1
48 10.7 E48K
49 11.4
50 12
51 12.6 A51V
52 13.2 P52S
53 13.7 R53Q
54 14.2
55 14.7