D1994Y Summary

SCN5A D1994Y was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D1994Y is not present in gnomAD. D1994Y has been functionally characterized in 0 papers. Other variants at the same resdue are D1994A .D1994E .D1994E .D1994G .D1994H .D1994N .D1994V .D1994Y . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

D1994Y 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 0.627

D1994Y 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
1979 14.7
1980 14.2 V1980F
1981 13.7
1982 13.2
1983 12.6 A1983G
1984 12 T1984I
1985 11.4
1986 10.7 D1986N
1987 10.1 N1987K N1987K
1988 9.3 L1988R
1989 8.5
1990 7.6 V1990L V1990L
1991 6.6 R1991Q R1991W
1992 5.4 G1992A
1993 3.8
1995 3.8
1996 5.4
1997 6.6
1998 7.6
1999 8.5
2000 9.3 D2000Y
2001 10.1
2002 10.7 A2002T
2003 11.4 D2003N
2004 12 F2004I F2004L F2004L F2004V
2005 12.6
2006 13.2 P2006A
2007 13.7
2008 14.2 P2008L
2009 14.7