A1581V Summary

SCN5A A1581V was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A1581V is not present in gnomAD. A1581V has been functionally characterized in 0 papers. Other variants at the same resdue are A1581D .A1581G .A1581P .A1581S .A1581T .A1581V . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

A1581V 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 0.938

A1581V has 43 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
1508 14.9
1509 12.7
1510 7.9
1511 9.2
1512 8.4 R1512Q R1512W
1513 6.6
1514 11.6
1515 11.9 N1515S
1516 13.7
1517 12.7
1518 6.6
1519 7.9
1520 10.8
1521 5.9
1522 4.9
1523 9 D1523N
1524 8.9 I1524T
1525 6.4 V1525M
1526 8.9 T1526P
1527 12.7
1530 11.4
1531 13.2
1572 14.5
1573 11.8
1574 11.4 E1574K
1575 10.2
1576 9.2
1577 6.4
1578 6.9
1579 6.1
1580 3.6
1582 3.8
1583 5.8 R1583C R1583H
1584 9.4
1585 8.5
1586 8.5
1587 11.4
1588 12.6
1589 12.8
1592 11.4
1593 14.8 I1593M
1595 14.5
1596 14 F1596I