M623R Summary

SCN5A M623R was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. M623R is not present in gnomAD. M623R has been functionally characterized in 0 papers. Other variants at the same resdue are M623I .M623I .M623I .M623K .M623L .M623L .M623R .M623T .M623V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

M623R 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 0.458

M623R 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
608 14.7 D608N
609 14.2
610 13.7
611 13.2
612 12.6
613 12
614 11.4
615 10.7 G615E
616 10.1
617 9.3
618 8.5 L618F
619 7.6 L619F
620 6.6 R620C R620H
621 5.4
622 3.8
624 3.8 L624Q
625 5.4 E625D E625D
626 6.6
627 7.6 P627L
628 8.5
629 9.3
630 10.1 T630M
631 10.7
632 11.4 T632M
633 12
634 12.6 S634L
635 13.2
636 13.7
637 14.2
638 14.7