P621T Summary

SCN5A P621T was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. P621T is not present in gnomAD. P621T has been functionally characterized in 0 papers. Other variants at the same resdue are P621A .P621H .P621L .P621R .P621S .P621T . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

P621T 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 0.455

P621T 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
606 14.7
607 14.2 G607V
608 13.7 D608N
609 13.2
610 12.6
611 12
612 11.4
613 10.7
614 10.1
615 9.3 G615E
616 8.5
617 7.6
618 6.6 L618F
619 5.4 L619F
620 3.8 R620C R620H
622 3.8
623 5.4
624 6.6 L624Q
625 7.6 E625D E625D
626 8.5
627 9.3 P627L
628 10.1
629 10.7
630 11.4 T630M
631 12
632 12.6 T632M
633 13.2
634 13.7 S634L
635 14.2
636 14.7