D1986G Summary

SCN5A D1986G was found in 0 papers (see below) with a total of 1 carrier: 0 had BrS1, 0 had LQT3, and 0 had other disease. D1986G is present in 1 out of 31394 alleles in gnomAD (minor allele frequency of 0.003185%). D1986G has been functionally characterized in 0 papers. Other variants at the same resdue are D1986A .D1986E .D1986E .D1986G .D1986H .D1986N .D1986V .D1986Y . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

D1986G 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
Tolerated 0.108 -3.25 possiblydamaging 0.774 2.034 0.95 -3 0.544

D1986G 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
1971 14.7
1972 14.2
1973 13.7 F1973L F1973L F1973L
1974 13.2
1975 12.6
1976 12
1977 11.4 Y1977N
1978 10.7
1979 10.1
1980 9.3 V1980F
1981 8.5
1982 7.6
1983 6.6 A1983G
1984 5.4 T1984I
1985 3.8
1987 3.8 N1987K N1987K
1988 5.4 L1988R
1989 6.6
1990 7.6 V1990L V1990L
1991 8.5 R1991Q R1991W
1992 9.3 G1992A
1993 10.1
1994 10.7
1995 11.4
1996 12
1997 12.6
1998 13.2
1999 13.7
2000 14.2 D2000Y
2001 14.7