A23V Summary

SCN5A A23V was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A23V is not present in gnomAD. A23V has been functionally characterized in 0 papers. Other variants at the same resdue are A23D .A23G .A23P .A23S .A23T .A23V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

A23V 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 0.572

A23V 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
8 14.7 R8Q
9 14.2 G9S
10 13.7
11 13.2
12 12.6
13 12
14 11.4 R14C R14H
15 10.7 R15G R15M R15T
16 10.1
17 9.3
18 8.5 R18Q R18W
19 7.6
20 6.6
21 5.4
22 3.8 A22V
24 3.8
25 5.4 E25K
26 6.6
27 7.6 R27C R27H R27L
28 8.5 M28I M28I M28I M28L M28L
29 9.3 A29V
30 10.1
31 10.7
32 11.4
33 12
34 12.6 R34C R34H
35 13.2 G35S
36 13.7
37 14.2 T37A
38 14.7