P633R Summary

SCN5A P633R was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. P633R is not present in gnomAD. P633R has been functionally characterized in 0 papers. Other variants at the same resdue are P633A .P633L .P633Q .P633R .P633S .P633T . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

P633R 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 0.42

P633R 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
618 14.7 L618F
619 14.2 L619F
620 13.7 R620C R620H
621 13.2
622 12.6
623 12
624 11.4 L624Q
625 10.7 E625D E625D
626 10.1
627 9.3 P627L
628 8.5
629 7.6
630 6.6 T630M
631 5.4
632 3.8 T632M
634 3.8 S634L
635 5.4
636 6.6
637 7.6
638 8.5
639 9.3 G639R G639R
640 10.1 P640A
641 10.7
642 11.4
643 12
644 12.6
645 13.2
646 13.7
647 14.2 A647D A647S A647V
648 14.7 P648L