Q646L Summary

SCN5A Q646L was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. Q646L is not present in gnomAD. Q646L has been functionally characterized in 0 papers. Other variants at the same resdue are Q646E .Q646H .Q646H .Q646K .Q646L .Q646P .Q646R . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

Q646L 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 0.517

Q646L 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
631 14.7
632 14.2 T632M
633 13.7
634 13.2 S634L
635 12.6
636 12
637 11.4
638 10.7
639 10.1 G639R G639R
640 9.3 P640A
641 8.5
642 7.6
643 6.6
644 5.4
645 3.8
647 3.8 A647D A647S A647V
648 5.4 P648L
649 6.6 C649Y
650 7.6
651 8.5
652 9.3
653 10.1
654 10.7 E654K
655 11.4 E655K
656 12 P656L
657 12.6
658 13.2
659 13.7 R659Q R659W
660 14.2
661 14.7 R661W