S459R Summary

SCN5A S459R was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. S459R is not present in gnomAD. S459R has been functionally characterized in 0 papers. Other variants at the same resdue are S459C .S459G .S459I .S459N .S459R .S459R .S459R .S459T . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

S459R 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 0.618

S459R 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
444 14.7
445 14.2 H445D
446 13.7 E446K
447 13.2 A447G
448 12.6
449 12 T449A
450 11.4
451 10.7
452 10.1
453 9.3 V453M
454 8.5
455 7.6
456 6.6 V456M
457 5.4
458 3.8 R458C R458H
460 3.8
461 5.4 L461V
462 6.6 E462K
463 7.6 M463R
464 8.5
465 9.3
466 10.1 L466F L466F
467 10.7
468 11.4 P468L
469 12
470 12.6 N470K N470K
471 13.2
472 13.7
473 14.2
474 14.7 R474K