A1580V Summary

SCN5A A1580V was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A1580V is not present in gnomAD. A1580V has been functionally characterized in 0 papers. Other variants at the same resdue are A1580D .A1580G .A1580P .A1580S .A1580T .A1580V . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

A1580V 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 0.441

A1580V has 40 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 11.2
1511 12
1512 11 R1512Q R1512W
1513 8
1514 12.3
1515 11.7 N1515S
1516 12.5
1517 11.7
1518 5.8
1519 9.1
1520 11.4
1521 6
1522 8
1523 11.3 D1523N
1524 10.2 I1524T
1525 8.8 V1525M
1526 11.9 T1526P
1527 14.7
1530 12.6
1572 12.4
1573 10.3
1574 11 E1574K
1575 8.8
1576 6.7
1577 5.8
1578 7.6
1579 4.3
1581 3.6
1582 6.1
1583 5.6 R1583C R1583H
1584 9.6
1585 10.7
1586 8.8
1587 11.4
1588 14.2
1589 14.5
1592 12.2
1593 14.9 I1593M
1595 14.4
1596 12.6 F1596I