E161D Summary

SCN5A E161D was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. E161D is not present in gnomAD. E161D has been functionally characterized in 0 papers. Other variants at the same resdue are E161A .E161D .E161D .E161G .E161K .E161Q .E161V . This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

E161D 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	0.775

E161D has 49 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
140	11.6
141	12.8	I141N I141V
143	11.3
144	8.3
145	12.4
146	12.5	V146A V146M
147	7
148	9.5
149	12.7
150	12.1
151	9
152	14.6	D152N
153	14.6
154	13
155	11.4
156	8.9
157	6.6
158	5.6
159	7.4	Y159C
160	4.9
162	5.2
163	7.2
164	6.1
165	7.1
166	10.1	A166T
167	11.2
168	10.4
169	13.1
200	13.2
201	12.2
202	14.8
203	13.3
204	8.8
205	12.3
206	12.8
207	9.2
208	8.1
209	13.6
210	12.7
212	13.7
216	14.9	S216L
218	12.4
219	9.1	R219C
220	14.1	T220I
222	7.8	R222Q
223	12.9	V223L
225	13.2	R225Q R225W
855	14.6
859	13.5