G485R Summary

SCN5A G485R was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. G485R is not present in gnomAD. G485R has been functionally characterized in 0 papers. Other variants at the same resdue are G485A .G485E .G485R .G485R .G485V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

G485R 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 0.449

G485R 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
470 14.7 N470K N470K
471 14.2
472 13.7
473 13.2
474 12.6 R474K
475 12 R475K R475S R475S
476 11.4
477 10.7
478 10.1
479 9.3
480 8.5 K480N K480N
481 7.6 R481Q R481W
482 6.6
483 5.4
484 3.8
486 3.8
487 5.4
488 6.6
489 7.6
490 8.5
491 9.3
492 10.1
493 10.7 R493K
494 11.4
495 12
496 12.6
497 13.2
498 13.7
499 14.2
500 14.7