R479G Summary

SCN5A R479G was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. R479G is not present in gnomAD. R479G has been functionally characterized in 0 papers. Other variants at the same resdue are R479G .R479I .R479K .R479S .R479S .R479T . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

R479G 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 0.329

R479G 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
464 14.7
465 14.2
466 13.7 L466F L466F
467 13.2
468 12.6 P468L
469 12
470 11.4 N470K N470K
471 10.7
472 10.1
473 9.3
474 8.5 R474K
475 7.6 R475K R475S R475S
476 6.6
477 5.4
478 3.8
480 3.8 K480N K480N
481 5.4 R481Q R481W
482 6.6
483 7.6
484 8.5
485 9.3
486 10.1
487 10.7
488 11.4
489 12
490 12.6
491 13.2
492 13.7
493 14.2 R493K
494 14.7