A1746D Summary

SCN5A A1746D was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A1746D is not present in gnomAD. A1746D has been functionally characterized in 0 papers. Other variants at the same resdue are A1746D .A1746G .A1746P .A1746S .A1746T .A1746V . This residue is located in a Mild_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

A1746D 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	0.789

A1746D has 37 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
1399	14.8
1404	14.8
1406	12	G1406E G1406R G1406R
1407	12.8
1409	13.9
1410	11.4
1671	14.5
1674	12.5	F1674V
1675	12.7
1677	13.9
1678	10.1	N1678S
1679	11
1682	13.9
1716	14.8
1717	10.8
1718	12.8
1719	13.3
1720	9.2
1721	7.8
1722	8.6	N1722D
1723	11.7	T1723N
1724	12.6
1725	14.5	P1725L
1728	14.2
1742	12.7
1743	9.7	G1743E G1743R G1743R
1744	6.4	S1744I
1745	3.9
1747	3.9	V1747M
1748	5.2
1749	4.8
1750	5.5
1751	9.4
1752	10.4
1753	10
1754	11.6
1756	14.7