L56V Summary

SCN5A L56V was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. L56V is not present in gnomAD. L56V has been functionally characterized in 0 papers. Other variants at the same resdue are L56M .L56P .L56Q .L56R .L56V . This residue is located in a Non_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

L56V 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 0.305

L56V 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
41 14.7
42 14.2
43 13.7 R43Q
44 13.2
45 12.6
46 12
47 11.4
48 10.7 E48K
49 10.1
50 9.3
51 8.5 A51V
52 7.6 P52S
53 6.6 R53Q
54 5.4
55 3.8
57 3.8
58 5.4
59 6.6
60 7.6 A60P
61 8.5
62 9.3
63 10.1 K63N K63N
64 10.7
65 11.4
66 12
67 12.6
68 13.2
69 13.7 G69D
70 14.2 N70K N70K N70S
71 14.7