A1006S Summary

SCN5A A1006S was found in 0 papers (see below) with a total of 1 carrier: 0 had BrS1, 0 had LQT3, and 0 had other disease. A1006S is present in 1 out of 243536 alleles in gnomAD (minor allele frequency of 0.000411%). A1006S has been functionally characterized in 0 papers. Other variants at the same resdue are A1006D .A1006G .A1006P .A1006S .A1006T .A1006V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

A1006S 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 0.941 0.36 benign 0.003 3.681 0.17 0 0.283

A1006S 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
991 14.7
992 14.2
993 13.7 A993T
994 13.2
995 12.6 L995F
996 12
997 11.4 A997D A997S A997T
998 10.7
999 10.1
1000 9.3 p.Gln1000del
1001 8.5
1002 7.6 P1002S
1003 6.6
1004 5.4 C1004R
1005 3.8
1007 3.8
1008 5.4 P1008S
1009 6.6
1010 7.6
1011 8.5 P1011L P1011S
1012 9.3
1013 10.1
1014 10.7 P1014S
1015 11.4
1016 12 T1016M
1017 12.6
1018 13.2
1019 13.7
1020 14.2
1021 14.7 P1021S