T630P Summary

SCN5A T630P was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. T630P is not present in gnomAD. T630P has been functionally characterized in 0 papers. Other variants at the same resdue are T630A .T630K .T630M .T630P .T630R .T630S . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

T630P 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 0.605

T630P 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
615 14.7 G615E
616 14.2
617 13.7
618 13.2 L618F
619 12.6 L619F
620 12 R620C R620H
621 11.4
622 10.7
623 10.1
624 9.3 L624Q
625 8.5 E625D E625D
626 7.6
627 6.6 P627L
628 5.4
629 3.8
631 3.8
632 5.4 T632M
633 6.6
634 7.6 S634L
635 8.5
636 9.3
637 10.1
638 10.7
639 11.4 G639R G639R
640 12 P640A
641 12.6
642 13.2
643 13.7
644 14.2
645 14.7