A944G Summary

SCN5A A944G was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A944G is not present in gnomAD. A944G has been functionally characterized in 0 papers. Other variants at the same resdue are A944E .A944G .A944P .A944S .A944T .A944V . This residue is located in a Non_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

A944G 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	0.654

A944G has 44 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
823	14
824	11.8
825	14.2
826	13.7
827	8.7
828	10.7
829	13.8
830	11.3
831	8.8
832	13.2
833	14.8	G833R G833R
834	13
835	14.2	S835A
936	14.4
937	13.7
938	11.3
939	10.1
940	10.1
941	8.5	S941N
942	6.8
943	4.2
1329	14.4	G1329S
1330	13.4	A1330T
1332	13.7	P1332L
1333	10.5
1334	13.8	I1334V
1336	12
1337	12.6
1340	14.9	V1340I
1460	14.8
1464	11.6
1465	14.5
1466	13.8
1467	9.9
1468	8.9
1469	12.8
1470	11.8
1471	7.8
1472	10.3	p.N1472del
1473	15	F1473C
1474	12.2
1475	11.7
1484	14.8
1487	13.8	M1487L M1487L