A997V Summary

SCN5A A997V was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A997V is not present in gnomAD. A997V has been functionally characterized in 0 papers. Other variants at the same resdue are A997D .A997G .A997P .A997S .A997T .A997V . This residue is located in a Non_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

A997V 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 0.424

A997V 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
982 14.7 C982R
983 14.2 G983D
984 13.7
985 13.2
986 12.6 R986L R986Q R986W
987 12
988 11.4 R988Q R988W
989 10.7
990 10.1
991 9.3
992 8.5
993 7.6 A993T
994 6.6
995 5.4 L995F
996 3.8
998 3.8
999 5.4
1000 6.6 p.Gln1000del
1001 7.6
1002 8.5 P1002S
1003 9.3
1004 10.1 C1004R
1005 10.7
1006 11.4
1007 12
1008 12.6 P1008S
1009 13.2
1010 13.7
1011 14.2 P1011L P1011S
1012 14.7