A1050T Summary

SCN5A A1050T was found in 0 papers (see below) with a total of 2 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A1050T is present in 2 out of 248836 alleles in gnomAD (minor allele frequency of 0.000804%). A1050T has been functionally characterized in 0 papers. Other variants at the same resdue are A1050D .A1050G .A1050P .A1050S .A1050T .A1050V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

A1050T 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
Damaging 0.038 -3.81 probablydamaging 0.999 1.986 0.58 -1 0.73

A1050T 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
1035 14.7
1036 14.2
1037 13.7
1038 13.2
1039 12.6
1040 12 G1040R G1040R
1041 11.4 D1041N
1042 10.7
1043 10.1
1044 9.3
1045 8.5 V1045M
1046 7.6
1047 6.6
1048 5.4
1049 3.8
1051 3.8
1052 5.4
1053 6.6 E1053K
1054 7.6
1055 8.5
1056 9.3
1057 10.1
1058 10.7
1059 11.4
1060 12
1061 12.6 E1061D E1061D
1062 13.2
1063 13.7
1064 14.2 p.E1064del
1065 14.7