Q641L Summary

SCN5A Q641L was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. Q641L is not present in gnomAD. Q641L has been functionally characterized in 0 papers. Other variants at the same resdue are Q641E .Q641H .Q641H .Q641K .Q641L .Q641P .Q641R . This residue is located in a Mild_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

Q641L 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 0.562

Q641L 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
626 14.7
627 14.2 P627L
628 13.7
629 13.2
630 12.6 T630M
631 12
632 11.4 T632M
633 10.7
634 10.1 S634L
635 9.3
636 8.5
637 7.6
638 6.6
639 5.4 G639R G639R
640 3.8 P640A
642 3.8
643 5.4
644 6.6
645 7.6
646 8.5
647 9.3 A647D A647S A647V
648 10.1 P648L
649 10.7 C649Y
650 11.4
651 12
652 12.6
653 13.2
654 13.7 E654K
655 14.2 E655K
656 14.7 P656L