R8W Summary

SCN5A R8W was found in 0 papers (see below) with a total of 1 carrier: 0 had BrS1, 0 had LQT3, and 0 had other disease. R8W is present in 1 out of 247096 alleles in gnomAD (minor allele frequency of 0.000405%). R8W has been functionally characterized in 0 papers. Other variants at the same resdue are R8G .R8L .R8P .R8Q .R8W . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

R8W 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 probablydamaging 1 1.675 -7.19 -2 0.655

R8W has 22 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
1 10.1
2 9.3 A2T
3 8.5
4 7.6
5 6.6
6 5.4
7 3.8
9 3.8 G9S
10 5.4
11 6.6
12 7.6
13 8.5
14 9.3 R14C R14H
15 10.1 R15G R15M R15T
16 10.7
17 11.4
18 12 R18Q R18W
19 12.6
20 13.2
21 13.7
22 14.2 A22V
23 14.7