D1729E Summary

SCN5A D1729E was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D1729E is not present in gnomAD. D1729E has been functionally characterized in 0 papers. Other variants at the same resdue are D1729A .D1729E .D1729E .D1729G .D1729H .D1729N .D1729V .D1729Y . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

D1729E 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 0.728

D1729E has 22 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
1683 14.1
1722 11.5 N1722D
1723 13 T1723N
1724 10.5
1725 8.2 P1725L
1726 8.1
1727 6.7
1728 4.6
1730 3.6 P1730A P1730H P1730L
1731 5.6
1732 10.2
1733 10.2
1734 13.5
1735 14.6
1738 13.7
1739 12.4 R1739Q R1739W
1740 12.8 G1740R G1740R
1741 12.9 D1741N
1742 9.7
1743 12 G1743E G1743R G1743R
1744 14.9 S1744I
1745 14.6