L515H Summary

SCN5A L515H was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. L515H is not present in gnomAD. L515H has been functionally characterized in 0 papers. Other variants at the same resdue are L515F .L515H .L515I .L515P .L515R .L515V . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

L515H 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 0.491

L515H has 30 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
500 14.7
501 14.2
502 13.7
503 13.2
504 12.6 R504T
505 12
506 11.4 M506K
507 10.7
508 10.1
509 9.3
510 8.5
511 7.6
512 6.6 T512I
513 5.4 R513C
514 3.8 G514C
516 3.8
517 5.4
518 6.6
519 7.6
520 8.5 M520V
521 9.3 K521E
522 10.1
523 10.7 R523C R523H
524 11.4 S524Y
525 12
526 12.6 R526C R526H
527 13.2 G527R G527R
528 13.7 S528R S528R S528R
529 14.2
530 14.7 F530V