D1978V Summary

SCN5A D1978V was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D1978V is not present in gnomAD. D1978V has been functionally characterized in 0 papers. Other variants at the same resdue are D1978A .D1978E .D1978E .D1978G .D1978H .D1978N .D1978V .D1978Y . This residue is located in a Non_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

D1978V 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 0.798

D1978V 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
1963 14.7 P1963L
1964 14.2 S1964F
1965 13.7
1966 13.2
1967 12.6
1968 12 I1968M I1968S
1969 11.4
1970 10.7 p.S1970_S1972del
1971 10.1
1972 9.3
1973 8.5 F1973L F1973L F1973L
1974 7.6
1975 6.6
1976 5.4
1977 3.8 Y1977N
1979 3.8
1980 5.4 V1980F
1981 6.6
1982 7.6
1983 8.5 A1983G
1984 9.3 T1984I
1985 10.1
1986 10.7 D1986N
1987 11.4 N1987K N1987K
1988 12 L1988R
1989 12.6
1990 13.2 V1990L V1990L
1991 13.7 R1991Q R1991W
1992 14.2 G1992A
1993 14.7