D1610A Summary

SCN5A D1610A was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D1610A is not present in gnomAD. D1610A has been functionally characterized in 0 papers. Other variants at the same resdue are D1610A .D1610E .D1610E .D1610G .D1610H .D1610N .D1610V .D1610Y . This residue is located in a Non_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

D1610A 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 0.806

D1610A has 20 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
1601 12.4 L1601H
1602 12.5
1603 12.2
1604 8.5 V1604M
1605 7.2 G1605C
1606 9.8 T1606I
1607 10.4
1608 6.9
1609 3.7 S1609L
1611 4.2
1612 6
1613 4.9
1614 9.6
1615 10.1
1616 6.9
1617 9 p.F1617del
1618 10.5
1619 11.3
1620 14.9 T1620K T1620M
1622 13.2