D2000E Summary

SCN5A D2000E was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D2000E is not present in gnomAD. D2000E has been functionally characterized in 0 papers. Other variants at the same resdue are D2000A .D2000E .D2000E .D2000G .D2000H .D2000N .D2000V .D2000Y . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

D2000E 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 0.265

D2000E has 30 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
1985 14.7
1986 14.2 D1986N
1987 13.7 N1987K N1987K
1988 13.2 L1988R
1989 12.6
1990 12 V1990L V1990L
1991 11.4 R1991Q R1991W
1992 10.7 G1992A
1993 10.1
1994 9.3
1995 8.5
1996 7.6
1997 6.6
1998 5.4
1999 3.8
2001 3.8
2002 5.4 A2002T
2003 6.6 D2003N
2004 7.6 F2004I F2004L F2004L F2004V
2005 8.5
2006 9.3 P2006A
2007 10.1
2008 10.7 P2008L
2009 11.4
2010 12 R2010G
2011 12.6
2012 13.2 R2012C R2012H
2013 13.7
2014 14.2
2015 14.7