A996T Summary

SCN5A A996T was found in 0 papers (see below) with a total of 1 carrier: 0 had BrS1, 0 had LQT3, and 0 had other disease. A996T is present in 1 out of 239994 alleles in gnomAD (minor allele frequency of 0.000417%). A996T has been functionally characterized in 0 papers. Other variants at the same resdue are A996D .A996G .A996P .A996S .A996T .A996V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

A996T 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 0.591 -0.16 benign 0.023 3.598 -0.12 -1 0.315

A996T 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
981 14.7
982 14.2 C982R
983 13.7 G983D
984 13.2
985 12.6
986 12 R986L R986Q R986W
987 11.4
988 10.7 R988Q R988W
989 10.1
990 9.3
991 8.5
992 7.6
993 6.6 A993T
994 5.4
995 3.8 L995F
997 3.8 A997D A997S A997T
998 5.4
999 6.6
1000 7.6 p.Gln1000del
1001 8.5
1002 9.3 P1002S
1003 10.1
1004 10.7 C1004R
1005 11.4
1006 12
1007 12.6
1008 13.2 P1008S
1009 13.7
1010 14.2
1011 14.7 P1011L P1011S