D2003N Summary

SCN5A D2003N was found in 1 paper (see below) with a total of 4 carriers: 0 had BrS1, 0 had LQT3, and 1 had other disease. D2003N is present in 4 out of 194518 alleles in gnomAD (minor allele frequency of 0.002056%). D2003N has been functionally characterized in 0 papers. Other variants at the same resdue are D2003A .D2003E .D2003E .D2003G .D2003H .D2003N .D2003V .D2003Y . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

D2003N Reported Clinical Data

PMID Year Unaffected BrS LQT3 Other Other disease
2616435820150001SUDS
Summary totals might not agree with the literature table because of duplicate patients, which were excluded from the total counts.

D2003N 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
Damaging 0.006 -1.18 probablydamaging 0.966 2.484 1.36 2 0.381

D2003N has 28 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
1988 14.7 L1988R
1989 14.2
1990 13.7 V1990L V1990L
1991 13.2 R1991Q R1991W
1992 12.6 G1992A
1993 12
1994 11.4
1995 10.7
1996 10.1
1997 9.3
1998 8.5
1999 7.6
2000 6.6 D2000Y
2001 5.4
2002 3.8 A2002T
2004 3.8 F2004I F2004L F2004L F2004V
2005 5.4
2006 6.6 P2006A
2007 7.6
2008 8.5 P2008L
2009 9.3
2010 10.1 R2010G
2011 10.7
2012 11.4 R2012C R2012H
2013 12
2014 12.6
2015 13.2
2016 13.7 V2016M