V601L Summary

SCN5A V601L was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. V601L is not present in gnomAD. V601L has been functionally characterized in 0 papers. Other variants at the same resdue are V601A .V601D .V601F .V601G .V601I .V601L . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

V601L 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 0.584

V601L 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
586 14.7 A586T
587 14.2
588 13.7
589 13.2
590 12.6
591 12
592 11.4 N592K N592K N592S
593 10.7
594 10.1
595 9.3
596 8.5
597 7.6
598 6.6
599 5.4 G599R G599R
600 3.8
602 3.8
603 5.4
604 6.6 L604V
605 7.6
606 8.5
607 9.3 G607V
608 10.1 D608N
609 10.7
610 11.4
611 12
612 12.6
613 13.2
614 13.7
615 14.2 G615E
616 14.7