D191Y Summary

SCN5A D191Y was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D191Y is not present in gnomAD. D191Y has been functionally characterized in 0 papers. Other variants at the same resdue are D191A .D191E .D191E .D191G .D191H .D191N .D191V .D191Y . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

D191Y 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	0.968

D191Y has 35 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
171	14.7
172	14.2
175	11.4
176	13.3
178	14.7
179	12.2	R179Q
180	13.8
183	14
184	11.3
185	10.2	A185T A185V
186	9.5
187	6.8	T187S T187S
188	6.8
189	7.2
190	6.2	R190G R190L R190Q R190W
192	3.9
193	6.3
194	4.5
195	7.8
196	8.6
197	9.1
198	9.8
199	11.7
200	13.8
201	14.9
224	14.7
225	13.9	R225Q R225W
227	13.1	L227P
228	11.5
230	15	I230T I230V
231	13.8
237	14.3
240	14.1	V240M
241	14.9
244	13.4