A2002G Summary

SCN5A A2002G was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A2002G is not present in gnomAD. A2002G has been functionally characterized in 0 papers. Other variants at the same resdue are A2002D .A2002G .A2002P .A2002S .A2002T .A2002V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

A2002G 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 0.213

A2002G has 29 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
1987 14.7 N1987K N1987K
1988 14.2 L1988R
1989 13.7
1990 13.2 V1990L V1990L
1991 12.6 R1991Q R1991W
1992 12 G1992A
1993 11.4
1994 10.7
1995 10.1
1996 9.3
1997 8.5
1998 7.6
1999 6.6
2000 5.4 D2000Y
2001 3.8
2003 3.8 D2003N
2004 5.4 F2004I F2004L F2004L F2004V
2005 6.6
2006 7.6 P2006A
2007 8.5
2008 9.3 P2008L
2009 10.1
2010 10.7 R2010G
2011 11.4
2012 12 R2012C R2012H
2013 12.6
2014 13.2
2015 13.7
2016 14.2 V2016M