D2011H Summary

SCN5A D2011H was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D2011H is not present in gnomAD. D2011H has been functionally characterized in 0 papers. Other variants at the same resdue are D2011A .D2011E .D2011E .D2011G .D2011H .D2011N .D2011V .D2011Y . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

D2011H 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

D2011H has 20 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
1996 14.7
1997 14.2
1998 13.7
1999 13.2
2000 12.6 D2000Y
2001 12
2002 11.4 A2002T
2003 10.7 D2003N
2004 10.1 F2004I F2004L F2004L F2004V
2005 9.3
2006 8.5 P2006A
2007 7.6
2008 6.6 P2008L
2009 5.4
2010 3.8 R2010G
2012 3.8 R2012C R2012H
2013 5.4
2014 6.6
2015 7.6
2016 8.5 V2016M