L537R Summary

SCN5A L537R was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. L537R is not present in gnomAD. L537R has been functionally characterized in 0 papers. Other variants at the same resdue are L537M .L537P .L537Q .L537R .L537V . This residue is located in a Non_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

L537R 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 0.611

L537R 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
522 14.7
523 14.2 R523C R523H
524 13.7 S524Y
525 13.2
526 12.6 R526C R526H
527 12 G527R G527R
528 11.4 S528R S528R S528R
529 10.7
530 10.1 F530V
531 9.3 T531A
532 8.5 F532C F532L F532L F532L
533 7.6 R533C R533H R533S
534 6.6
535 5.4 R535Q
536 3.8 D536H
538 3.8
539 5.4
540 6.6
541 7.6
542 8.5
543 9.3
544 10.1
545 10.7
546 11.4
547 12
548 12.6
549 13.2
550 13.7
551 14.2 A551T A551V
552 14.7 G552R G552R G552W