A410D Summary

SCN5A A410D was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A410D is not present in gnomAD. A410D has been functionally characterized in 0 papers. Other variants at the same resdue are A410D .A410G .A410P .A410S .A410T .A410V .A410W . This residue is located in a Non_Hotspot region for BrS1 and in a Hotspot region for Long QT syndrome.

A410D 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 0.974

A410D has 83 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 12.7
243 13.9
245 12.8 Q245K
246 9.4
247 12.5 V247L V247L
248 14.8
249 9.8
250 9.3
251 13.5
252 13.3
253 10.1
254 13.1
256 13.8
257 14.1
400 14.5 G400E G400R G400R
401 13.7
402 14 F402L F402L F402L
403 11.7
404 10.1
405 9.1
406 6.9 N406K N406K N406S
407 5.5
408 6.1
409 4.3 L409V
411 4 V411M
412 5.6
413 5.2 A413T
414 5.9
415 8.5
416 11.1 Y416C
417 11.1
418 11.9
419 15
924 14.4 V924I
927 13.8 N927S
928 10.9
929 10.9
930 13.5
931 13.5
932 8.5
933 10.7
934 14.3
935 10.1
936 9.5
937 14.1
938 14.3
939 11.1
940 14
1463 14.9
1466 12.3
1467 13.4
1469 14.8
1470 11
1471 14.5
1473 14.7 F1473C
1474 14.4
1642 12.7
1643 13
1645 12.7 T1645M
1646 9.3
1647 13
1648 14.5
1649 10.7
1650 10.8
1652 13.8
1653 12.9
1657 14.8
1765 13.9
1767 13.1 Y1767C
1768 9.3 I1768V
1769 9.9
1770 11.5
1771 7.6
1772 5.2
1773 9.4
1774 10.2
1775 5.2
1776 7.8
1777 11.4 V1777M
1778 11
1779 9.4 T1779M
1780 12.2
1782 14.5