A1088T Summary

SCN5A A1088T was found in 0 papers (see below) with a total of 31 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A1088T is present in 31 out of 277120 alleles in gnomAD (minor allele frequency of 0.011186%). A1088T has been functionally characterized in 0 papers. Other variants at the same resdue are A1088D .A1088G .A1088P .A1088S .A1088T .A1088V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

A1088T 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 0.617 -0.16 benign 0.001 1.141 0.25 -1 0.237

A1088T 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
1073 14.7
1074 14.2
1075 13.7
1076 13.2
1077 12.6
1078 12
1079 11.4 S1079F S1079T
1080 10.7
1081 10.1
1082 9.3 V1082A
1083 8.5
1084 7.6 G1084S
1085 6.6
1086 5.4
1087 3.8
1089 3.8
1090 5.4 P1090L
1091 6.6
1092 7.6
1093 8.5
1094 9.3
1095 10.1 W1095C W1095C
1096 10.7
1097 11.4
1098 12 V1098L V1098L V1098M
1099 12.6
1100 13.2 A1100V
1101 13.7
1102 14.2 A1102T
1103 14.7 S1103F S1103Y