A1307P Summary

SCN5A A1307P was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A1307P is not present in gnomAD. A1307P has been functionally characterized in 0 papers. Other variants at the same resdue are A1307E .A1307G .A1307P .A1307S .A1307T .A1307V . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

A1307P 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 0.898

A1307P has 64 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
1211 13.7
1212 12.2 p.I1212del
1213 14.2
1214 13
1215 8 I1215V
1216 9.1
1217 12
1218 8.5 S1218I
1219 6.5
1220 9.8
1221 10.9 A1221V
1222 7.9
1223 10.4
1224 13.8
1225 12.7 E1225K
1226 13.9
1239 14.1 L1239P
1242 13.9
1243 13.4 D1243N
1246 12.4
1247 14.5 T1247I
1250 12.1
1271 12.4
1274 9.6
1275 10.8 D1275N
1277 12.4
1278 8.9 I1278N
1279 13.5 V1279I
1281 12.1 V1281F
1282 12.9
1301 10.6
1302 11.4
1303 9.5 R1303Q
1304 5.9 T1304M
1305 6.1
1306 6.6 R1306H
1308 4 L1308F
1309 7.1 R1309H
1310 5.7
1311 7.7
1312 12.8
1313 11.4
1314 11.9
1315 14
1662 14.5
1663 13.1
1665 11.8
1666 8.1
1667 10.3 V1667I
1668 12.5
1669 6.8
1670 5.8
1671 10.1
1672 10.1 S1672Y
1673 7.3
1674 9.6 F1674V
1675 12.3
1676 12.6 M1676I M1676I M1676I
1677 12.9
1678 14.7 N1678S
1697 14.3
1700 15
1701 14.7 M1701I M1701I M1701I
1751 15