A1427G Summary

SCN5A A1427G was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A1427G is not present in gnomAD. A1427G has been functionally characterized in 0 papers. Other variants at the same resdue are A1427E .A1427G .A1427P .A1427S .A1427T .A1427V . This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

A1427G 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 0.881

A1427G has 62 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
878 9.8 R878C R878H
879 11.6 W879R W879R
886 14.5 H886P H886Q H886Q
889 14
1352 12.9
1353 14.9 V1353M
1355 11.7
1356 8.4
1357 12 A1357V
1358 11.2
1359 8.1
1360 5.1
1361 8.6
1362 7.2
1363 13.1
1364 12.8
1380 11.7 N1380K N1380K p.N1380del
1382 14.7 S1382I
1395 13.6
1396 12.4
1397 11.1
1398 7.7 V1398M
1399 12.4
1400 9.2
1401 9.9
1402 9.8
1403 12.7
1407 14.3
1408 13.4 G1408R G1408R
1411 11.7
1412 13.6
1414 13.8
1415 12.6
1420 10.8 G1420R G1420V
1421 11.5
1422 9.7
1423 7.2
1424 6
1425 6.9
1426 4.6
1428 3.6 A1428S A1428V
1429 5.7
1430 4.5 D1430N
1431 5.7
1432 11.4 R1432S R1432S
1433 10.7 G1433W
1434 12.8
1436 13.8
1437 11
1438 7.6
1439 10.2
1440 9.9
1441 12.5
1442 12
1443 10.6 N1443S
1444 11.3
1445 13.7 Y1445H
1446 11.5
1447 13
1449 12.5 Y1449C
1450 10.8
1714 14.2