I408S Summary

SCN5A I408S was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. I408S is not present in gnomAD. I408S has been functionally characterized in 0 papers. Other variants at the same resdue are I408F .I408L .I408M .I408N .I408S .I408T .I408V . This residue is located in a Non_Hotspot region for BrS1 and in a Hotspot region for Long QT syndrome.

I408S 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 0.976

I408S has 77 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
242 13.1
243 12.4
244 14.6
245 13.1 Q245K
246 8.5
247 9.6 V247L V247L
248 13.3
249 10.3
250 6.2
251 10.6
252 11.6
253 7.1
254 8.3
255 12.7
256 11
257 9.5
258 13.5
260 13.4
261 13.9
366 12.7
369 10.6 M369K
370 11.5 T370M
371 13.8 Q371E
400 11.5 G400E G400R G400R
401 10.2
402 12.4 F402L F402L F402L
403 11
404 6.5
405 5.4
406 6.5 N406K N406K N406S
407 4.7
409 5.4 L409V
410 6.1
411 5.7 V411M
412 6.6
413 9.4 A413T
414 10.4
415 11.3
416 13.9 Y416C
895 14.9
897 14.9
920 14.2
921 14.5
922 14.5
923 11.5
924 8.9 V924I
925 11.6
926 11.3
927 9.4 N927S
928 5.6
929 7.6
930 11.2
931 11.1
932 7
933 10.8
934 14.5
935 11.2
936 12.2
1466 14.4
1642 13.8
1643 12.8
1646 10.8
1647 13.6
1649 13.9
1650 12.3
1765 14.9
1767 13.9 Y1767C
1768 11 I1768V
1769 13.6
1770 14.9
1771 10.4
1772 10
1773 14.9
1774 14.9
1775 10.2
1776 13.8
1779 14.4 T1779M