L825Q Summary

SCN5A L825Q was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. L825Q is not present in gnomAD. L825Q has been functionally characterized in 0 papers. Other variants at the same resdue are L825M .L825P .L825Q .L825R .L825V . This residue is located in a Mild_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

L825Q 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 0.984

L825Q has 46 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
724 13.5 T724I
727 13.9
728 14.5 V728I
731 14.9
781 11.2
784 13.7
813 14.4
815 10.4
816 8.9 F816Y
817 10.8
818 7.7
819 4.4
820 9.1
821 7.8
822 6
823 6.2
824 4.4
826 5
827 6.6
828 5.3
829 6
830 10
831 10.4
832 10
833 12.6 G833R G833R
834 14.3
942 12.8
944 14.2
1333 14.1
1335 14.2 M1335R
1336 9.7
1337 10.3
1338 12.4 L1338V
1339 7.9 p.L1339del
1340 6.6 V1340I
1341 10.6
1342 11.7
1343 8
1344 8.6
1345 13.8 W1345C W1345C
1346 13.2 L1346P
1347 12.4
1456 13.9
1460 12.6
1461 12.6 T1461S T1461S
1464 13.1