M748I Summary

SCN5A M748I was found in 0 papers (see below) with a total of 1 carrier: 0 had BrS1, 0 had LQT3, and 0 had other disease. M748I is present in 1 out of 248244 alleles in gnomAD (minor allele frequency of 0.000403%). M748I has been functionally characterized in 0 papers. Other variants at the same resdue are M748I .M748I .M748I .M748K .M748L .M748L .M748R .M748T .M748V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

M748I 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
Tolerated 0.099 -0.78 benign 0.002 1.56 2.5 -1 0.581

M748I 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
726 14.7
729 11.2
730 11.4
731 13.4
732 11
733 6.9 F733L F733L F733L
734 11.8
735 11.6 A735E A735T A735V
736 8.8
737 10.5
738 12.7
740 14.1
741 9.9
742 8.9
743 8.9
744 7.3
745 4.9
746 7.7 E746K
747 6.1
749 4.2
750 8
751 6.4 V751I
752 6.9 G752R G752R
753 9.1
754 11
755 11
756 11.2
757 14.7
808 14.9 R808C
811 14.3 R811H