A1270G Summary

SCN5A A1270G was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A1270G is not present in gnomAD. A1270G has been functionally characterized in 0 papers. Other variants at the same resdue are A1270D .A1270G .A1270P .A1270S .A1270T .A1270V . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

A1270G 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	0.754

A1270G has 37 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
1254	13.6
1257	13
1258	14
1261	11.8
1262	13.5	G1262S
1263	13.4
1264	14.2
1265	10.9
1266	8.6
1267	9.6
1268	7
1269	3.9	N1269S
1271	4.7
1272	5.5
1273	6.1
1274	6.5
1275	8.7	D1275N
1276	10
1277	9.7
1278	11.9	I1278N
1279	14.3	V1279I
1280	14.5
1305	13.6
1308	11.5	L1308F
1309	11.8	R1309H
1310	13.7
1311	11
1312	9.3
1313	13.8
1315	12
1316	14.4	R1316Q
1324	12.7
1325	13.4	N1325S
1327	14
1328	11
1329	14.4	G1329S
1331	14.2