M715I Summary

SCN5A M715I was found in 0 papers (see below) with a total of 1 carrier: 0 had BrS1, 0 had LQT3, and 0 had other disease. M715I is present in 1 out of 31396 alleles in gnomAD (minor allele frequency of 0.003185%). M715I has been functionally characterized in 0 papers. Other variants at the same resdue are M715I .M715I .M715I .M715K .M715L .M715L .M715R .M715T .M715V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

M715I 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
Damaging 0.001 -3.2 benign 0.013 1.011 -1.44 -1 0.735

M715I has 25 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
710 8.9
711 5.3
712 4.8
713 6.6
714 4.9 V714A
716 5.9
717 8.6 P717L
718 10.5
719 9.7
720 10.5
721 13.9
722 14.9
723 14.7 I723V
763 13.7 E763K
766 13.7
767 10.4
768 14.8
769 14.2
770 10
771 9.7
772 14.5 D772N
775 14.3
776 14
779 15 Q779K
782 14.6