V600M Summary

SCN5A V600M was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. V600M is not present in gnomAD. V600M has been functionally characterized in 0 papers. Other variants at the same resdue are V600A .V600E .V600G .V600L .V600L .V600M . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

V600M 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 0.618

V600M 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
585 14.7
586 14.2 A586T
587 13.7
588 13.2
589 12.6
590 12
591 11.4
592 10.7 N592K N592K N592S
593 10.1
594 9.3
595 8.5
596 7.6
597 6.6
598 5.4
599 3.8 G599R G599R
601 3.8
602 5.4
603 6.6
604 7.6 L604V
605 8.5
606 9.3
607 10.1 G607V
608 10.7 D608N
609 11.4
610 12
611 12.6
612 13.2
613 13.7
614 14.2
615 14.7 G615E