Y403H Summary

SCN5A Y403H was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. Y403H is not present in gnomAD. Y403H has been functionally characterized in 0 papers. Other variants at the same resdue are Y403C .Y403D .Y403F .Y403H .Y403N .Y403S . This residue is located in a Non_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

Y403H 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 0.982

Y403H has 67 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
253 12.2
254 14.4
256 10.9
257 11.3
259 13.8
260 10.3
261 13.1
263 14.5 V263I
264 12.5
365 14.6
366 14.9
368 13.5
369 9.7 M369K
370 13.4 T370M
371 12.5 Q371E
394 12.2
395 10.7
396 10.2
397 9.4 I397V
398 6.8
399 5.6
400 5.1 G400E G400R G400R
401 6.8
402 6.1 F402L F402L F402L
404 6.1
405 8.4
406 7 N406K N406K N406S
407 7.7
408 11
409 12 L409V
410 11.7
411 14 V411M
928 14.7
1634 13.8
1643 13.7
1645 14.9 T1645M
1646 10.6
1647 10.1
1648 13.2
1649 9.9
1650 6.3
1651 10.5
1652 11.8
1653 8
1654 7.8
1655 11.3
1656 10.7
1657 7.1
1658 9.7
1659 13.4
1660 11.3 I1660V
1661 11.9 G1661R G1661R
1664 13.7
1709 14.5 T1709M
1763 14.1 V1763M
1764 11.5
1765 13.3
1766 13.5 M1766T M1766V
1767 6.6 Y1767C
1768 9.4 I1768V
1769 11.3
1770 9.6
1771 6.7
1772 10.9
1773 14
1774 11.5
1775 11.8