H508R Summary

SCN5A H508R was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. H508R is not present in gnomAD. H508R has been functionally characterized in 0 papers. Other variants at the same resdue are H508D .H508L .H508N .H508P .H508Q .H508Q .H508R .H508Y . This residue is located in a Non_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

H508R 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 0.365

H508R 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
493 14.7 R493K
494 14.2
495 13.7
496 13.2
497 12.6
498 12
499 11.4
500 10.7
501 10.1
502 9.3
503 8.5
504 7.6 R504T
505 6.6
506 5.4 M506K
507 3.8
509 3.8
510 5.4
511 6.6
512 7.6 T512I
513 8.5 R513C
514 9.3 G514C
515 10.1
516 10.7
517 11.4
518 12
519 12.6
520 13.2 M520V
521 13.7 K521E
522 14.2
523 14.7 R523C R523H