D2009Y Summary

SCN5A D2009Y was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D2009Y is not present in gnomAD. D2009Y has been functionally characterized in 0 papers. Other variants at the same resdue are D2009A .D2009E .D2009E .D2009G .D2009H .D2009N .D2009V .D2009Y . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

D2009Y 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 0.552

D2009Y has 22 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
1994 14.7
1995 14.2
1996 13.7
1997 13.2
1998 12.6
1999 12
2000 11.4 D2000Y
2001 10.7
2002 10.1 A2002T
2003 9.3 D2003N
2004 8.5 F2004I F2004L F2004L F2004V
2005 7.6
2006 6.6 P2006A
2007 5.4
2008 3.8 P2008L
2010 3.8 R2010G
2011 5.4
2012 6.6 R2012C R2012H
2013 7.6
2014 8.5
2015 9.3
2016 10.1 V2016M