A1100T Summary

SCN5A A1100T was found in 0 papers (see below) with a total of 1 carrier: 0 had BrS1, 0 had LQT3, and 0 had other disease. A1100T is present in 1 out of 246464 alleles in gnomAD (minor allele frequency of 0.000406%). A1100T has been functionally characterized in 0 papers. Other variants at the same resdue are A1100E .A1100G .A1100P .A1100S .A1100T .A1100V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

A1100T 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 0.366 -0.32 benign 0.009 3.555 1.34 -1 0.311

A1100T 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
1085 14.7
1086 14.2
1087 13.7
1088 13.2 A1088T
1089 12.6
1090 12 P1090L
1091 11.4
1092 10.7
1093 10.1
1094 9.3
1095 8.5 W1095C W1095C
1096 7.6
1097 6.6
1098 5.4 V1098L V1098L V1098M
1099 3.8
1101 3.8
1102 5.4 A1102T
1103 6.6 S1103F S1103Y
1104 7.6
1105 8.5
1106 9.3 A1106T
1107 10.1 E1107K
1108 10.7
1109 11.4 S1109G
1110 12
1111 12.6
1112 13.2
1113 13.7 A1113V
1114 14.2 D1114E D1114E D1114N
1115 14.7