A217G Summary

SCN5A A217G was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A217G is not present in gnomAD. A217G has been functionally characterized in 0 papers. Other variants at the same resdue are A217D .A217G .A217P .A217S .A217T .A217V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

A217G 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	0.852

A217G has 43 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
148	14.5
196	14.7
199	12
200	10.7
201	13.5
202	12.1
203	7.2
204	10.1
205	14.3
206	9.8
207	8.8
208	13.5
209	13.3
210	14.1
211	12
212	10.8
213	10.8
214	8.9
215	5.2
216	3.8	S216L
218	4.1
219	7	R219C
220	4.3	T220I
221	5.4
222	9.1	R222Q
223	10.9	V223L
224	11.2
852	14.2
854	15
855	12.4
856	9.6
857	11.4	G857D
858	12.8	M858L M858L
859	7.8
860	7.8
861	11.5
862	12.9
863	12.8
864	14.3
910	15	S910L
913	13.8
914	11.3
918	14