A1288G Summary

SCN5A A1288G was found in 1 paper (see below) with a total of 1 carrier: 1 had BrS1, 0 had LQT3, and 0 had other disease. A1288G is not present in gnomAD. A1288G has been functionally characterized in 0 papers. Other variants at the same resdue are A1288D .A1288G .A1288P .A1288S .A1288T .A1288V . This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

A1288G Reported Clinical Data

PMID Year Unaffected BrS LQT3 Other Other disease
2012928320100100
Summary totals might not agree with the literature table because of duplicate patients, which were excluded from the total counts.

A1288G 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
Damaging 0.017 -3.3 possiblydamaging 0.91 0.9043 -0.5 -2 0.845

A1288G has 29 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
1240 11.6 E1240Q
1243 10.9 D1243N
1244 11.7
1247 12.2 T1247I
1248 13.6
1279 14.2 V1279I
1280 13.2
1281 11 V1281F
1282 10.2
1283 9.4
1284 6.4
1285 5.1
1286 6.2
1287 4.2
1289 4
1290 5.2
1291 4.8
1292 7.3
1293 12 F1293S
1294 11.8 A1294G
1295 9.1 E1295K
1296 12.2
1297 8.1
1298 9.2 P1298L
1299 7
1300 12.2
1301 13.5
1302 11.3
1303 12.3 R1303Q