P640H Summary

SCN5A P640H was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. P640H is not present in gnomAD. P640H has been functionally characterized in 0 papers. Other variants at the same resdue are P640A .P640H .P640L .P640R .P640S .P640T . This residue is located in a Mild_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

P640H 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 0.608

P640H 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
625 14.7 E625D E625D
626 14.2
627 13.7 P627L
628 13.2
629 12.6
630 12 T630M
631 11.4
632 10.7 T632M
633 10.1
634 9.3 S634L
635 8.5
636 7.6
637 6.6
638 5.4
639 3.8 G639R G639R
641 3.8
642 5.4
643 6.6
644 7.6
645 8.5
646 9.3
647 10.1 A647D A647S A647V
648 10.7 P648L
649 11.4 C649Y
650 12
651 12.6
652 13.2
653 13.7
654 14.2 E654K
655 14.7 E655K