A1983G Summary

SCN5A A1983G was found in 1 paper (see below) with a total of 4 carriers: 0 had BrS1, 1 had LQT3, and 0 had other disease. A1983G is present in 3 out of 266622 alleles in gnomAD (minor allele frequency of 0.001125%). A1983G has been functionally characterized in 0 papers. Other variants at the same resdue are A1983D .A1983G .A1983P .A1983S .A1983T .A1983V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

A1983G Reported Clinical Data

PMID Year Unaffected BrS LQT3 Other Other disease
2363143020130010
Summary totals might not agree with the literature table because of duplicate patients, which were excluded from the total counts.

A1983G 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 0.429 -0.16 benign 0.005 3.663 0.22 -2 0.227

A1983G 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
1968 14.7 I1968M I1968S
1969 14.2
1970 13.7 p.S1970_S1972del
1971 13.2
1972 12.6
1973 12 F1973L F1973L F1973L
1974 11.4
1975 10.7
1976 10.1
1977 9.3 Y1977N
1978 8.5
1979 7.6
1980 6.6 V1980F
1981 5.4
1982 3.8
1984 3.8 T1984I
1985 5.4
1986 6.6 D1986N
1987 7.6 N1987K N1987K
1988 8.5 L1988R
1989 9.3
1990 10.1 V1990L V1990L
1991 10.7 R1991Q R1991W
1992 11.4 G1992A
1993 12
1994 12.6
1995 13.2
1996 13.7
1997 14.2
1998 14.7