A185G Summary

SCN5A A185G was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A185G is not present in gnomAD. A185G has been functionally characterized in 0 papers. Other variants at the same resdue are A185E .A185G .A185P .A185S .A185T .A185V . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

A185G 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	0.389

A185G has 33 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	12.5
113	9.8
114	10.5
121	14.2	R121Q R121W
171	14.3
172	10.9
173	12.1
174	13
175	10.3
176	6.9
177	11.1
178	11.1
179	9.7	R179Q
180	6.3
181	7.4
182	5.5
183	6.4
184	5.5
186	5.4
187	5.2	T187S T187S
188	4.8
189	5.7
190	9.3	R190G R190L R190Q R190W
191	10.2
192	12.6
194	9.5
195	11.2
196	13.9
197	12.3
198	8.6
199	12.5
201	14.3
202	13.3