D252A Summary

SCN5A D252A was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D252A is not present in gnomAD. D252A has been functionally characterized in 0 papers. Other variants at the same resdue are D252A .D252E .D252E .D252G .D252H .D252N .D252V .D252Y . This residue is located in a Non_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

D252A 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 0.964

D252A has 42 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
245 12.8 Q245K
246 12.1
247 10.7 V247L V247L
248 10.1
249 8.3
250 6.9
251 3.9
253 5.1
254 7.1
255 5.7
256 7.6
257 9.7
258 10.9
259 12.3
260 13.1
261 15
404 12.5
407 10.8
408 11.6
410 13.3
411 10.5 V411M
412 14.3
414 13.2
415 14.7
1633 14.1
1634 13.6
1636 14.7
1637 10.5
1638 15 R1638Q
1639 10.4 G1639A
1640 7.1
1641 10.7
1642 6
1643 5.5
1644 11.6 R1644C R1644H
1645 10.6 T1645M
1646 8.8
1647 10.6
1649 14.5
1650 14
1775 12.9
1779 14 T1779M