R661P Summary

SCN5A R661P was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. R661P is not present in gnomAD. R661P has been functionally characterized in 0 papers. Other variants at the same resdue are R661G .R661L .R661P .R661Q .R661W . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

R661P 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 0.868

R661P 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
646 14.7
647 14.2 A647D A647S A647V
648 13.7 P648L
649 13.2 C649Y
650 12.6
651 12
652 11.4
653 10.7
654 10.1 E654K
655 9.3 E655K
656 8.5 P656L
657 7.6
658 6.6
659 5.4 R659Q R659W
660 3.8
662 3.8 A662S
663 5.4
664 6.6 S664G
665 7.6 A665S A665T
666 8.5
667 9.3
668 10.1 V668I
669 10.7
670 11.4
671 12
672 12.6 A672T
673 13.2
674 13.7
675 14.2
676 14.7