Q660E Summary

SCN5A Q660E was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. Q660E is not present in gnomAD. Q660E has been functionally characterized in 0 papers. Other variants at the same resdue are Q660E .Q660H .Q660H .Q660K .Q660L .Q660P .Q660R . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

Q660E 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 0.463

Q660E 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
645 14.7
646 14.2
647 13.7 A647D A647S A647V
648 13.2 P648L
649 12.6 C649Y
650 12
651 11.4
652 10.7
653 10.1
654 9.3 E654K
655 8.5 E655K
656 7.6 P656L
657 6.6
658 5.4
659 3.8 R659Q R659W
661 3.8 R661W
662 5.4 A662S
663 6.6
664 7.6 S664G
665 8.5 A665S A665T
666 9.3
667 10.1
668 10.7 V668I
669 11.4
670 12
671 12.6
672 13.2 A672T
673 13.7
674 14.2
675 14.7