A1288P Summary

SCN5A A1288P was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A1288P is not present in gnomAD. A1288P 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.

A1288P 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	0.943

A1288P 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