A1628D Summary

SCN5A A1628D was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A1628D is not present in gnomAD. A1628D has been functionally characterized in 0 papers. Other variants at the same resdue are A1628D .A1628G .A1628P .A1628S .A1628T .A1628V . This residue is located in a Mild_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

A1628D 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 0.972

A1628D has 61 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
259 11.2
260 12
261 14.9
262 12
263 8.4 V263I
264 10.3
265 13.3
266 10.9
267 9.6
268 13.9
270 13.1 Q270K
271 13.7
391 14.8
392 13.8
395 11.7
396 14.6
399 13.3
1534 14
1535 11.5
1537 13.7
1538 9
1539 11.5 C1539Y
1540 14.6
1541 10.6
1542 9.2
1543 14.5 V1543A V1543L V1543L
1544 14.9
1545 11.6
1546 14.3
1571 12.7
1574 14.4 E1574K
1589 13
1590 10.3
1591 7.5
1592 11.6
1593 11.2 I1593M
1594 6.7
1595 8.6
1596 13.4 F1596I
1597 10.4 V1597M
1598 9
1599 13
1601 13.3 L1601H
1602 14.7
1619 14.7
1620 13 T1620K T1620M
1621 11
1622 10.8
1623 11 R1623L R1623Q
1624 6.5 V1624I
1625 5.9
1626 8 R1626C R1626H R1626P
1627 4.8
1629 5.6 R1629G R1629Q
1630 5.8
1631 6.3 G1631D
1632 7.8 R1632C R1632H
1633 10.6
1634 11.4
1635 12.8
1636 14.7