L404R Summary

SCN5A L404R was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. L404R is not present in gnomAD. L404R has been functionally characterized in 0 papers. Other variants at the same resdue are L404M .L404P .L404Q .L404R .L404V . This residue is located in a Non_Hotspot region for BrS1 and in a Hotspot region for Long QT syndrome.

L404R 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 0.986

L404R has 71 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 14.6
247 14.8 V247L V247L
249 14.9
250 10.2
251 12.7
252 12.5
253 7.6
254 8.8
255 11.4
256 7.7
257 6.2
258 10.5
259 11.5
260 7.9
261 9.3
262 13.2
263 13.2 V263I
264 11.9
362 13.8
365 11.7
366 10.2
367 15 R367C R367H
368 11.7
369 6.1 M369K
370 9.7 T370M
371 11.1 Q371E
395 13.1
396 10.3
397 10.2 I397V
398 11.2
399 9.3
400 5.3 G400E G400R G400R
401 5.7
402 8.5 F402L F402L F402L
403 6.1
405 5
406 6.5 N406K N406K N406S
407 5.1
408 6.5
409 9.9 L409V
410 10.1
411 10.9 V411M
412 12.9
413 14.8 A413T
920 14.9
923 13.5
924 12.3 V924I
927 12.9 N927S
928 9.7
929 13.5
932 12.1
1634 14.6
1642 14.5
1643 11.9
1646 10.1
1647 10.8
1649 12.5
1650 9.3
1651 14.2
1653 13
1654 13.4
1657 12.9
1764 14.1
1767 11.1 Y1767C
1768 11.2 I1768V
1769 14.1
1770 13.9
1771 9.5
1772 12
1774 14.7
1775 11.9