F745Y Summary

SCN5A F745Y was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. F745Y is not present in gnomAD. F745Y has been functionally characterized in 0 papers. Other variants at the same resdue are F745C .F745I .F745L .F745L .F745L .F745S .F745V .F745Y . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

F745Y 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 0.83

F745Y has 27 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
729 14.4
730 14.5
732 12.5
733 9.7 F733L F733L F733L
734 13.2
735 11.4 A735E A735T A735V
736 7.3
737 9.6
738 9
739 12.4
740 9.7
741 6.8
742 4.4
743 6.4
744 5
746 6.4 E746K
747 8.2
748 4.9
749 6.5
750 10.9
751 10.8 V751I
752 11.5 G752R G752R
753 12.7
1353 14.5 V1353M
1403 14.9
1404 13.8
1405 14.9 V1405L V1405L V1405M