A166P Summary

SCN5A A166P was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A166P is not present in gnomAD. A166P has been functionally characterized in 0 papers. Other variants at the same resdue are A166D .A166G .A166P .A166S .A166T .A166V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

A166P 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	0.947

A166P has 40 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
133	13.1
136	13	L136P
137	11.1	I137V
139	14.7
140	10.4
141	13.1	I141N I141V
143	13.9
144	12.9
147	14.6
157	14.7
158	13.6
159	12.1	Y159C
160	10.1
161	10.1	E161K
162	8.1
163	5.4
164	7.2
165	4.1
167	4.1
168	6.3
169	4.9
170	7.1
171	8.9
172	9.7
173	10.7
174	12.2
175	13.6
197	13.8
198	13.5
200	13.5
201	9.7
202	13
204	10.5
205	10
206	14.1
207	13.5
208	10
209	14.5
222	13.3	R222Q
225	12.8	R225Q R225W