V405A Summary

SCN5A V405A was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. V405A is not present in gnomAD. V405A has been functionally characterized in 0 papers. Other variants at the same resdue are V405A .V405E .V405G .V405L .V405L .V405M . This residue is located in a Mild_Hotspot region for BrS1 and in a Hotspot region for Long QT syndrome.

V405A 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 0.932

V405A 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
246 13.5
247 14.5 V247L V247L
250 11.1
251 15
253 10.7
254 11.3
256 12.4
257 10.2
258 14.4
260 12.6
261 12.7
365 13.6
366 10.6
367 14.3 R367C R367H
368 12
369 7.2 M369K
370 7.8 T370M
371 8.8 Q371E
372 13
374 14.5
396 12.2
397 10.4 I397V
398 12
399 12.1
400 7.9 G400E G400R G400R
401 5.5
402 7.5 F402L F402L F402L
403 8.4
404 5
406 4.1 N406K N406K N406S
407 6.6
408 5.4
409 6.8 L409V
410 9.1
411 10.5 V411M
412 10.7
413 12.7 A413T
414 14.6
895 14.2
896 14.2
897 12.1
899 14
920 14.3
923 10.9
924 10.7 V924I
925 14.1
926 12.5
927 8.9 N927S
928 6.7
929 10.7
930 13.1
931 11.2
932 8
933 13.5
935 11.4
936 14.1
1463 13.4
1466 12.5
1470 14.7
1646 13.3
1647 14.9
1649 14.9
1650 12.3
1653 14.6
1657 13.6
1709 12.7 T1709M
1710 14.5 S1710L
1760 13.8
1764 11.1
1765 11.4
1767 10.3 Y1767C
1768 8.3 I1768V
1769 12.1
1770 13.3
1771 9.4
1772 10.4
1775 12.7