L407Q Summary

SCN5A L407Q was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. L407Q is not present in gnomAD. L407Q has been functionally characterized in 0 papers. Other variants at the same resdue are L407M .L407P .L407Q .L407R .L407V . This residue is located in a Mild_Hotspot region for BrS1 and in a Hotspot region for Long QT syndrome.

L407Q 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 0.98

L407Q has 75 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 11.5
247 12.8 V247L V247L
249 11.1
250 8.1
251 11.4
252 10.8
253 6.5
254 9.5
255 12.1
256 8.8
257 9.1
258 13.4
259 14.2
260 11.6
261 13.7
366 14.5
369 11 M369K
370 13.6 T370M
371 14.9 Q371E
397 14.5 I397V
398 14
399 12.7
400 9.7 G400E G400R G400R
401 9.8
402 11.1 F402L F402L F402L
403 7.7
404 5.1
405 6.6
406 5.6 N406K N406K N406S
408 4.7
409 7 L409V
410 5.5
411 6.5 V411M
412 9.3
413 10.5 A413T
414 10.2
415 12.8
924 13.2 V924I
927 13.7 N927S
928 10.1
929 12.1
932 10.6
933 14.3
935 13.6
936 14.3
1466 14.9
1470 14.6
1642 11.3
1643 9.9
1644 14.6 R1644C R1644H
1645 11.6 T1645M
1646 6.8
1647 9.3
1648 13
1649 9.4
1650 7.7
1651 13
1652 13.1
1653 11.4
1654 13.3
1657 12.9
1765 14.8
1767 11.5 Y1767C
1768 10 I1768V
1769 11.8
1770 11.9
1771 7.1
1772 8.2
1773 12.5
1774 11.2
1775 7.1
1776 11.3
1777 13.9 V1777M
1778 12.5
1779 12 T1779M