C489R Summary

SCN5A C489R was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. C489R is not present in gnomAD. C489R has been functionally characterized in 0 papers. Other variants at the same resdue are C489F .C489G .C489R .C489S .C489S .C489W .C489Y . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

C489R 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 0.175

C489R 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
474 14.7 R474K
475 14.2 R475K R475S R475S
476 13.7
477 13.2
478 12.6
479 12
480 11.4 K480N K480N
481 10.7 R481Q R481W
482 10.1
483 9.3
484 8.5
485 7.6
486 6.6
487 5.4
488 3.8
490 3.8
491 5.4
492 6.6
493 7.6 R493K
494 8.5
495 9.3
496 10.1
497 10.7
498 11.4
499 12
500 12.6
501 13.2
502 13.7
503 14.2
504 14.7 R504T