M801L Summary

SCN5A M801L was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. M801L is not present in gnomAD. M801L has been functionally characterized in 0 papers. Other variants at the same resdue are M801I .M801I .M801I .M801K .M801L .M801L .M801R .M801T .M801V .p.801_803delMSN/insS . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

M801L 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 0.55

M801L has 14 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
793 13.4
794 11.9
795 11.1
796 10.1
797 6.2 G797V
798 6.4
799 6.7
800 6.5 R800C R800H R800L
802 5.3
803 6.9
804 10.8
805 12.9 S805L
807 13.1
808 14.9 R808C