A1677P Summary

SCN5A A1677P was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A1677P is not present in gnomAD. A1677P has been functionally characterized in 0 papers. Other variants at the same resdue are A1677D .A1677G .A1677P .A1677S .A1677T .A1677V . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

A1677P 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 0.84

A1677P has 60 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
1219 14.9
1221 14.7 A1221V
1222 11.1
1223 11.7
1224 14.1
1225 9.1 E1225K
1226 6.8
1227 9.6
1228 13.7 Y1228C Y1228H
1229 12.3
1239 14.4 L1239P
1298 13.2 P1298L
1299 12.1
1300 8
1301 6.3
1302 10.6
1303 10.7 R1303Q
1304 8.3 T1304M
1305 12.3
1306 14.4 R1306H
1307 12.9
1308 14.8 L1308F
1669 12.9
1670 11.8
1671 11.1
1672 8.6 S1672Y
1673 7.1
1674 6.2 F1674V
1675 4.7
1676 5.1 M1676I M1676I M1676I
1678 3.8 N1678S
1679 6.3
1680 6.7 A1680T
1681 10.6 Y1681F
1682 10.8
1693 12.6
1694 8.9
1695 10.5
1696 11.4
1697 13
1698 14.6 A1698T
1699 14.1
1700 11.4
1701 14.8 M1701I M1701I M1701I
1703 14.7
1704 14.3
1720 12.7
1732 13.9
1740 11.7 G1740R G1740R
1741 13.7 D1741N
1742 13.1
1743 12 G1743E G1743R G1743R
1744 11 S1744I
1745 14.1
1746 13.9 A1746T A1746V
1747 10.1 V1747M
1748 12.3
1750 14.1
1751 10.6
1752 14.2