N406H Summary

SCN5A N406H was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. N406H is not present in gnomAD. N406H has been functionally characterized in 0 papers. Other variants at the same resdue are N406A .N406C .N406D .N406E .N406F .N406H .N406I .N406K .N406K .N406R .N406S .N406T .N406Y . This residue is located in a Mild_Hotspot region for BrS1 and in a Hotspot region for Long QT syndrome.

N406H 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 0.94

N406H has 76 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
246 14.1
250 12.3
253 11.6
254 13.5
256 13.4
257 12.5
260 14.2
366 14.5
368 14.9
369 10.4 M369K
370 11.5 T370M
371 11.4 Q371E
396 14
397 11.8 I397V
398 11.4
399 11.9
400 9 G400E G400R G400R
401 7.4
402 7.2 F402L F402L F402L
403 7
404 6.5
405 4.1
407 5.6
408 6.5
409 5.4 L409V
410 6.9
411 9.7 V411M
412 10.3
413 10.9 A413T
414 12.9
415 14.9
923 14.6
924 14 V924I
927 11.8 N927S
928 9.7
929 12.5
930 14.7
931 12.7
932 8.6
933 13.6
935 10.4
936 12.7
939 13.6
1463 12.8
1466 10.1
1467 13.1
1469 12.8
1470 11.2
1473 13.6 F1473C
1646 11.8
1647 13.6
1649 12.1
1650 10
1652 14.5
1653 11.3
1654 13.4
1656 13.8
1657 10.7
1660 13.2 I1660V
1709 13.7 T1709M
1760 13.5
1762 14.9 I1762M
1763 13.1 V1763M
1764 9.6
1765 9.3
1766 11.9 M1766T M1766V
1767 7.6 Y1767C
1768 5 I1768V
1769 8.2
1770 9.4
1771 5.6
1772 6.7
1773 11.4
1774 11.6
1775 9.9
1776 12.7