D1280G Summary

SCN5A D1280G was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D1280G is not present in gnomAD. D1280G has been functionally characterized in 0 papers. Other variants at the same resdue are D1280A .D1280E .D1280E .D1280G .D1280H .D1280N .D1280V .D1280Y . This residue is located in a Mild_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

D1280G 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	0.607

D1280G has 41 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
1243	13.2	D1243N
1246	14.6
1247	10	T1247I
1248	13.2
1249	13.5
1250	9.8
1251	9.8	V1251M
1252	14.3
1253	12.7
1254	9.4
1255	12.9
1257	14.3
1258	11.3
1266	12.4
1267	11.8
1270	14.5
1272	12.5
1273	9.3
1274	10.2
1275	9.3	D1275N
1276	5.4
1277	5.6
1278	6.6	I1278N
1279	4.1	V1279I
1281	5.1	V1281F
1282	6.3
1283	5.4
1284	7.1
1285	10
1286	10.5
1287	10.9
1288	13.2
1299	14
1301	14.4
1302	10.1
1303	12.9	R1303Q
1304	13.6	T1304M
1305	10.2
1306	11.1	R1306H
1308	13.8	L1308F
1309	12.9	R1309H