D1595V Summary

SCN5A D1595V was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D1595V is not present in gnomAD. D1595V has been functionally characterized in 0 papers. Other variants at the same resdue are D1595A .D1595E .D1595E .D1595G .D1595H .D1595N .D1595V .D1595Y . This residue is located in a Non_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

D1595V 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 0.963

D1595V has 59 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
1525 13 V1525M
1530 12.3
1531 12
1532 14.9 V1532F V1532I
1533 14.4 T1533I
1534 9.8
1535 10.1
1537 11.9
1538 9.4
1539 13.5 C1539Y
1541 12.2
1542 13.9
1567 13.2
1568 11.1
1569 13
1570 12.1 p.1570_F1571insI p.I1570dup
1571 7.7
1572 10.2
1573 10.8
1574 7 E1574K
1575 7
1576 11.9
1577 12
1578 8.2
1579 10.9
1580 14.4
1581 14.5
1582 12.7
1586 7.8
1587 10.2
1588 12.5
1589 8.8
1590 8.4
1591 7.3
1592 5
1593 6.5 I1593M
1594 5.8
1596 6.4 F1596I
1597 6.8 V1597M
1598 6
1599 7.2
1600 9.8
1601 11.1 L1601H
1602 11.3
1603 13.3
1621 14.6
1622 11.9
1624 12.5 V1624I
1625 8.6
1626 9.8 R1626C R1626H R1626P
1627 11.5
1628 8.6
1629 4.6 R1629G R1629Q
1630 10.6
1631 10.5 G1631D
1632 7.1 R1632C R1632H
1633 13.4
1634 14.7
1635 12