I706M Summary

SCN5A I706M was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. I706M is not present in gnomAD. I706M has been functionally characterized in 0 papers. Other variants at the same resdue are I706F .I706L .I706M .I706N .I706S .I706T .I706V . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

I706M 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 0.658

I706M 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
691 14.7 A691S A691T
692 14.2 Q692K
693 13.7 R693C R693H
694 13.2 Y694C
695 12.6
696 12
697 11.4
698 10.7
699 10.1
700 9.3
701 8.5 P701L
702 7.6
703 6.6
704 5.4
705 3.8 S705F
707 3.8
708 5.4
709 6.6
710 7.6
711 8.5
712 9.3
713 10.1
714 10.7 V714A
715 11.4
716 12
717 12.6 P717L
718 13.2
719 13.7
720 14.2
721 14.7