C649R Summary

SCN5A C649R was found in 0 papers (see below) with a total of 1 carrier: 0 had BrS1, 0 had LQT3, and 0 had other disease. C649R is present in 1 out of 248168 alleles in gnomAD (minor allele frequency of 0.000403%). C649R has been functionally characterized in 0 papers. Other variants at the same resdue are C649F .C649G .C649R .C649S .C649S .C649W .C649Y . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

C649R 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
Damaging 0.033 -0.99 benign 0.174 2.157 0.23 -8 0.505

C649R 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
634 14.7 S634L
635 14.2
636 13.7
637 13.2
638 12.6
639 12 G639R G639R
640 11.4 P640A
641 10.7
642 10.1
643 9.3
644 8.5
645 7.6
646 6.6
647 5.4 A647D A647S A647V
648 3.8 P648L
650 3.8
651 5.4
652 6.6
653 7.6
654 8.5 E654K
655 9.3 E655K
656 10.1 P656L
657 10.7
658 11.4
659 12 R659Q R659W
660 12.6
661 13.2 R661W
662 13.7 A662S
663 14.2
664 14.7 S664G