M642I Summary

SCN5A M642I was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. M642I is not present in gnomAD. M642I has been functionally characterized in 0 papers. Other variants at the same resdue are M642I .M642I .M642I .M642K .M642L .M642L .M642R .M642T .M642V . This residue is located in a Mild_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

M642I 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 0.457

M642I 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
627 14.7 P627L
628 14.2
629 13.7
630 13.2 T630M
631 12.6
632 12 T632M
633 11.4
634 10.7 S634L
635 10.1
636 9.3
637 8.5
638 7.6
639 6.6 G639R G639R
640 5.4 P640A
641 3.8
643 3.8
644 5.4
645 6.6
646 7.6
647 8.5 A647D A647S A647V
648 9.3 P648L
649 10.1 C649Y
650 10.7
651 11.4
652 12
653 12.6
654 13.2 E654K
655 13.7 E655K
656 14.2 P656L
657 14.7