A178T Summary

SCN5A A178T was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A178T is not present in gnomAD. A178T has been functionally characterized in 0 papers. Other variants at the same resdue are A178D .A178G .A178P .A178S .A178T .A178V . This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

A178T 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
NA NA NA NA NA NA NA NA 0.942

A178T has 44 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
112 10.6
113 10.8
114 7.5
115 10
116 9.5
117 12.8
118 10.7
119 11.8 P119L P119S
120 10.1
121 5.1 R121Q R121W
122 9.4
123 8.7 A123V
124 6
125 4.8 V125L V125L
126 9.6
127 9.2
128 6.7
129 9
130 13.4
133 12
134 13.1
169 14.6
170 11.9
171 11.1
172 10.1
173 8.8
174 6.1
175 6.7
176 6.2
177 4.9
179 3.5 R179Q
180 6.3
181 10.9
182 12.8
183 12.6
184 8.4
185 11.1 A185T A185V
187 11.8 T187S T187S
188 9.3
189 15
191 14.7
194 12.4
197 14.2
198 12.8