D1741V Summary

SCN5A D1741V was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D1741V is not present in gnomAD. D1741V has been functionally characterized in 0 papers. Other variants at the same resdue are D1741A .D1741E .D1741E .D1741G .D1741H .D1741N .D1741V .D1741Y . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

D1741V 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 0.84

D1741V has 41 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
1227 12.4
1676 14.6 M1676I M1676I M1676I
1677 13.7
1678 13.1 N1678S
1679 11.2
1680 7.8 A1680T
1681 6.1 Y1681F
1682 5.3
1683 4.5
1684 9.8
1685 11
1686 14.9
1688 12
1690 12.2 D1690N
1693 12.5
1694 12.7
1695 10.8
1718 14.4
1719 11.1
1720 11.3
1721 13.4
1722 12.2 N1722D
1725 15 P1725L
1727 14.7
1728 13.8
1729 12.9 D1729N
1730 11.4 P1730A P1730H P1730L
1731 8.4
1732 8.3
1733 11.5
1734 12.7
1735 13.4
1737 11.6 G1737D
1738 9.2
1739 4.1 R1739Q R1739W
1740 3.8 G1740R G1740R
1742 5.3
1743 7.3 G1743E G1743R G1743R
1744 10.8 S1744I
1745 13.8
1747 14.9 V1747M