D1163G Summary

SCN5A D1163G was found in 0 papers (see below) with a total of 1 carrier: 0 had BrS1, 0 had LQT3, and 0 had other disease. D1163G is present in 1 out of 239814 alleles in gnomAD (minor allele frequency of 0.000417%). D1163G has been functionally characterized in 0 papers. Other variants at the same resdue are D1163A .D1163E .D1163E .D1163G .D1163H .D1163N .D1163V .D1163Y . This residue is located in a Non_Hotspot region for BrS1 and in a Hotspot region for Long QT syndrome.

D1163G 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	0.01	-3.83	benign	0.042	3.523	-1.81	-3	0.627

D1163G has 30 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
1148	14.7	A1148T
1149	14.2
1150	13.7
1151	13.2
1152	12.6
1153	12	Q1153H Q1153H
1154	11.4	I1154N
1155	10.7	P1155S
1156	10.1	D1156G
1157	9.3
1158	8.5	G1158S
1159	7.6
1160	6.6
1161	5.4
1162	3.8
1164	3.8	P1164T
1165	5.4
1166	6.6
1167	7.6
1168	8.5
1169	9.3	T1169I
1170	10.1
1171	10.7
1172	11.4
1173	12
1174	12.6	R1174W
1175	13.2	R1175H
1176	13.7
1177	14.2	P1177L
1178	14.7