P648R Summary

SCN5A P648R was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. P648R is not present in gnomAD. P648R has been functionally characterized in 0 papers. Other variants at the same resdue are P648A .P648L .P648Q .P648R .P648S .P648T . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

P648R 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 0.447

P648R 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
633 14.7
634 14.2 S634L
635 13.7
636 13.2
637 12.6
638 12
639 11.4 G639R G639R
640 10.7 P640A
641 10.1
642 9.3
643 8.5
644 7.6
645 6.6
646 5.4
647 3.8 A647D A647S A647V
649 3.8 C649Y
650 5.4
651 6.6
652 7.6
653 8.5
654 9.3 E654K
655 10.1 E655K
656 10.7 P656L
657 11.4
658 12
659 12.6 R659Q R659W
660 13.2
661 13.7 R661W
662 14.2 A662S
663 14.7