G452S Summary

SCN5A G452S was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. G452S is not present in gnomAD. G452S has been functionally characterized in 0 papers. Other variants at the same resdue are G452A .G452C .G452D .G452R .G452S .G452V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

G452S 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 0.437

G452S 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
437 14.7
438 14.2
439 13.7
440 13.2
441 12.6
442 12
443 11.4
444 10.7
445 10.1 H445D
446 9.3 E446K
447 8.5 A447G
448 7.6
449 6.6 T449A
450 5.4
451 3.8
453 3.8 V453M
454 5.4
455 6.6
456 7.6 V456M
457 8.5
458 9.3 R458C R458H
459 10.1
460 10.7
461 11.4 L461V
462 12 E462K
463 12.6 M463R
464 13.2
465 13.7
466 14.2 L466F L466F
467 14.7