A178S Summary

SCN5A A178S was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A178S is not present in gnomAD. A178S 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.

A178S 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	0.896

A178S 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