D1531E Summary

SCN5A D1531E was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D1531E is not present in gnomAD. D1531E has been functionally characterized in 0 papers. Other variants at the same resdue are D1531A .D1531E .D1531E .D1531G .D1531H .D1531N .D1531V .D1531Y . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

D1531E 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 0.621

D1531E has 47 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
1510 14.7
1521 13.2
1522 12.1
1523 12 D1523N
1524 8.9 I1524T
1525 7.1 V1525M
1526 7.8 T1526P
1527 7
1528 6.4
1529 5.7
1530 4.4
1532 5.1 V1532F V1532I
1533 6.7 T1533I
1534 6.2
1535 6.6
1536 10.8
1537 11.2
1538 11.4
1539 12.6 C1539Y
1540 14.8
1570 12.9 p.1570_F1571insI p.I1570dup
1571 12.2
1573 12.4
1574 8.9 E1574K
1575 12.3
1576 14.4
1577 10.7
1578 8.7
1579 14.8
1581 13.2
1582 12.9
1586 13.2
1589 12.6
1591 12.6
1592 11.1
1595 12
1629 12.1 R1629G R1629Q
1630 13.3
1631 13.1 G1631D
1632 8.9 R1632C R1632H
1633 11.3
1634 13.6
1635 8.6
1636 8.7
1637 13.7
1638 12.4 R1638Q
1796 14.8