M704R Summary

SCN5A M704R was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. M704R is not present in gnomAD. M704R has been functionally characterized in 0 papers. Other variants at the same resdue are M704I .M704I .M704I .M704K .M704L .M704L .M704R .M704T .M704V . This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

M704R 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 0.422

M704R 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
689 14.7 R689C R689H
690 14.2
691 13.7 A691S A691T
692 13.2 Q692K
693 12.6 R693C R693H
694 12 Y694C
695 11.4
696 10.7
697 10.1
698 9.3
699 8.5
700 7.6
701 6.6 P701L
702 5.4
703 3.8
705 3.8 S705F
706 5.4
707 6.6
708 7.6
709 8.5
710 9.3
711 10.1
712 10.7
713 11.4
714 12 V714A
715 12.6
716 13.2
717 13.7 P717L
718 14.2
719 14.7