A217S Summary

SCN5A A217S was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A217S is not present in gnomAD. A217S 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.

A217S 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 0.889

A217S 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