D152G Summary

SCN5A D152G was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D152G is not present in gnomAD. D152G has been functionally characterized in 0 papers. Other variants at the same resdue are D152A .D152E .D152E .D152G .D152H .D152N .D152V .D152Y . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

D152G 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	0.718

D152G 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
144	13.6
145	13
146	11	V146A V146M
147	10
148	9.4
149	5.9
150	6.3
151	5.7
153	4.6
154	5.9
155	8.7
156	9.2
157	12.4
161	14.6	E161K
219	13.3	R219C
851	13.4	F851L F851L F851L
854	12.3
855	10.9
856	14.4
857	13	G857D
858	8.3	M858L M858L
859	11.7
862	11.8
863	13.8
865	14.5
866	14	S866L
880	12
881	11.9
882	8.1
883	6
884	7.8
885	9
886	10.6	H886P H886Q H886Q
887	11
888	13.6
889	14.6
1441	13.4
1444	12.6
1445	14.8	Y1445H
1447	15