L749Q Summary

SCN5A L749Q was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. L749Q is not present in gnomAD. L749Q has been functionally characterized in 0 papers. Other variants at the same resdue are L749M .L749P .L749Q .L749R .L749V . This residue is located in a Mild_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

L749Q 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 0.978

L749Q has 44 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
726 14.2
727 14.8
728 14.2 V728I
729 11.1
730 9.2
731 11.3
732 10.1
733 5.6 F733L F733L F733L
734 8.5
735 9.4 A735E A735T A735V
736 7.2
737 7.1
738 11.3
739 14.4
740 13.3
741 8.3
742 9.6
743 10
744 10
745 6.5
746 6.8 E746K
747 7.1
748 4.2
750 5.8
751 6.6 V751I
752 6 G752R G752R
753 6.3
754 9.5
755 10.8
756 10.3
757 12.5
795 13.4
796 13.5
799 13.9
808 10.7 R808C
811 10.3 R811H
812 14.6
814 13.6 R814Q
1350 12.7
1353 12.6 V1353M
1354 11.9
1357 14.8 A1357V
1404 14.9
1405 14.5 V1405L V1405L V1405M