D1275Y Summary

SCN5A D1275Y was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D1275Y is not present in gnomAD. D1275Y has been functionally characterized in 0 papers. Other variants at the same resdue are D1275A .D1275E .D1275E .D1275G .D1275H .D1275N .D1275V .D1275Y . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

D1275Y 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 0.966

D1275Y has 58 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
1207 14.3
1208 13.3 E1208K
1211 10.4
1212 12 p.I1212del
1214 12.8
1215 10.1 I1215V
1216 14.2
1218 13.9 S1218I
1219 14.6
1246 12.6
1247 11.9 T1247I
1249 11.2
1250 7.4
1251 10.6 V1251M
1252 12.2
1253 7.7
1254 6.9
1255 12.3
1256 12.4
1257 8.4
1258 10
1260 14.6
1261 12
1262 13.6 G1262S
1263 14
1265 14.7
1266 7.8
1267 10.4
1268 12.6
1269 9.5 N1269S
1270 8.7
1271 8
1272 5.5
1273 7.8
1274 4.5
1276 6.6
1277 6.8
1278 5.2 I1278N
1279 7 V1279I
1280 9.3
1281 10.4 V1281F
1282 10.6
1283 12.5
1284 15
1302 14.1
1303 14.4 R1303Q
1304 13.2 T1304M
1305 9.4
1306 9.3 R1306H
1307 10.8
1308 8.9 L1308F
1309 5.3 R1309H
1310 10.3
1311 10.7
1312 9.9
1313 12.1
1315 13.9
1316 14.2 R1316Q