A33V Summary

SCN5A A33V was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A33V is not present in gnomAD. A33V has been functionally characterized in 0 papers. Other variants at the same resdue are A33D .A33G .A33P .A33S .A33T .A33V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

A33V 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 0.504

A33V 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
18 14.7 R18Q R18W
19 14.2
20 13.7
21 13.2
22 12.6 A22V
23 12
24 11.4
25 10.7 E25K
26 10.1
27 9.3 R27C R27H R27L
28 8.5 M28I M28I M28I M28L M28L
29 7.6 A29V
30 6.6
31 5.4
32 3.8
34 3.8 R34C R34H
35 5.4 G35S
36 6.6
37 7.6 T37A
38 8.5
39 9.3
40 10.1
41 10.7
42 11.4
43 12 R43Q
44 12.6
45 13.2
46 13.7
47 14.2
48 14.7 E48K