D951Y Summary

SCN5A D951Y was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. D951Y is not present in gnomAD. D951Y has been functionally characterized in 0 papers. Other variants at the same resdue are D951A .D951E .D951E .D951G .D951H .D951N .D951V .D951Y . This residue is located in a Non_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

D951Y 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	0.881

D951Y 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
936	14.7
937	14.2
938	13.7
939	13.2
940	12.6
941	12	S941N
942	11.4
943	10.7
944	10.1
945	9.3	D945G
946	8.5
947	7.6
948	6.6
949	5.4
950	3.8
952	3.8
953	5.4	D953E D953E
954	6.6
955	7.6
956	8.5
957	9.3
958	10.1
959	10.7	L959P
960	11.4
961	12
962	12.6
963	13.2
964	13.7
965	14.2	R965C R965H
966	14.7