L754M Summary

SCN5A L754M was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. L754M is not present in gnomAD. L754M has been functionally characterized in 0 papers. Other variants at the same resdue are L754M .L754P .L754Q .L754R .L754V . This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

L754M 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 0.733

L754M has 37 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
726 13.2
729 13.8
730 11.1
733 11.2 F733L F733L F733L
734 13.3
737 15
746 13 E746K
747 9.6
748 11
749 9.5
750 5.5
751 5.1 V751I
752 5.5 G752R G752R
753 5.1
755 5
756 7.7
757 6
758 7.4
759 9.8 I759V
760 10.8
761 11
762 13.2
788 14.5
789 12.8 V789I
791 14.6
792 9.9
793 10.2
794 14.2
795 10.1
796 7.3
797 11.5 G797V
798 14
799 10.7
800 9.7 R800C R800H R800L
808 12.6 R808C
811 10.7 R811H
814 12.4 R814Q