A286V Summary

SCN5A A286V was found in 0 papers (see below) with a total of 2 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A286V is present in 2 out of 249284 alleles in gnomAD (minor allele frequency of 0.000802%). A286V has been functionally characterized in 0 papers. Other variants at the same resdue are A286E .A286G .A286P .A286S .A286T .A286V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

A286V 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
Tolerated 0.649 -0.28 benign 0 3.757 -1.25 -2 0.29

A286V has 13 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
281 14.4 V281M
282 8.5 R282C R282H
283 10.7
284 6.1
285 3.9
287 4
288 7.3
289 10.2 G289S
318 14.5
319 12.8 G319S
337 13.9
338 11.5
339 12.1