D757Y Summary
SCN5A D757Y was found in 1 paper (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 1 had other disease. D757Y is not present in gnomAD. D757Y has been functionally characterized in 0 papers. Other variants at the same resdue are D757Y .T757A .T757I .T757K .T757P .T757R .T757S .
This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.
D757Y Reported Clinical Data
PMID |
Year |
Unaffected |
BrS |
LQT3 |
Other |
Other disease |
29907895 | 2018 | 0 | 0 | 0 | 1 | SIDS |
Summary totals might not agree with the literature table because of duplicate patients, which were excluded from the total counts.
D757Y 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 |
0.1985 |
-3.45 |
-11 |
0 |
D757Y has 56 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 |
14.4 |
|
723 |
12 |
I723V |
724 |
14.9 |
T724I |
726 |
10.3 |
|
727 |
11.2 |
|
728 |
14.5 |
V728I |
729 |
12.7 |
|
730 |
9.1 |
|
731 |
13.4 |
|
733 |
11.9 |
F733L F733L F733L |
734 |
12.3 |
|
748 |
14.7 |
|
749 |
12.5 |
|
750 |
10.3 |
|
751 |
10 |
V751I |
752 |
7.8 |
G752R G752R |
753 |
6.4 |
|
754 |
6 |
|
755 |
6.1 |
|
756 |
6 |
|
758 |
4 |
|
759 |
6.2 |
I759V |
760 |
5.3 |
|
761 |
6.1 |
|
762 |
8.9 |
|
763 |
10.6 |
E763K |
764 |
10.7 |
M764K |
765 |
12.1 |
|
766 |
14.1 |
|
784 |
14.5 |
|
785 |
11.8 |
D785N |
786 |
12.2 |
|
787 |
13.1 |
|
788 |
9.1 |
|
789 |
7.3 |
V789I |
790 |
10.9 |
|
791 |
10.7 |
|
792 |
6.1 |
|
793 |
7.3 |
|
794 |
11.8 |
|
795 |
9.5 |
|
796 |
7.8 |
|
797 |
12.2 |
G797V |
798 |
14.3 |
|
799 |
12.9 |
|
800 |
12.4 |
R800C R800H R800L |
807 |
13.4 |
|
808 |
12.7 |
R808C |
809 |
14.6 |
|
810 |
13.2 |
|
811 |
9.1 |
R811H |
812 |
13.9 |
|
813 |
13 |
|
814 |
8 |
R814Q |
815 |
14.3 |
|
817 |
13.5 |
|