N730Y Summary

SCN5A N730Y was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. N730Y is not present in gnomAD. N730Y has been functionally characterized in 0 papers. Other variants at the same resdue are N730D .N730H .N730I .N730K .N730K .N730S .N730T .N730Y . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

N730Y 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 0.946

N730Y has 60 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
722 12.7
723 10.7 I723V
724 10.4 T724I
725 10.7
726 6.9
727 5.6
728 6.6 V728I
729 5.6
731 4.6
732 6.6
733 5.1 F733L F733L F733L
734 5.3
735 8.9 A735E A735T A735V
736 11
737 11.1
745 14.5
748 11.4
749 9.2
750 11.7
751 11.2 V751I
752 7.3 G752R G752R
753 6.7
754 11.1
755 9.7
756 5.7
757 9.1
758 11.6
759 10.3 I759V
760 8.5
761 13.7
763 14.5 E763K
784 14.8
785 13.7 D785N
788 11.4
789 13.3 V789I
791 14.7
792 11.6
795 13.3
796 14.1
808 11.9 R808C
809 13.1
810 13.8
811 8 R811H
812 9.6
813 11.5
814 6.1 R814Q
815 8.5
816 12.7 F816Y
817 11
818 10.5
821 14.4
1343 14.1
1346 12.6 L1346P
1347 12.6
1349 14.4
1350 10.9
1351 14.8
1353 14.3 V1353M
1354 13.5
1405 14.5 V1405L V1405L V1405M