A762P Summary

SCN5A A762P was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A762P is not present in gnomAD. A762P has been functionally characterized in 0 papers. Other variants at the same resdue are A762E .A762G .A762P .A762S .A762T .A762V . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

A762P 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	0.936

A762P 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
710	10.7
713	11.9
714	12.1	V714A
719	10.9
720	12.7
722	12
723	10.2	I723V
724	14.9	T724I
726	11.9
727	14
752	14.8	G752R G752R
753	14.8
754	13.2
755	10.8
756	11
757	8.9
758	5.8
759	5.7	I759V
760	7.1
761	4.1
763	4.1	E763K
764	6.1	M764K
765	4.9
766	5.2
767	8.3
768	9.6
769	10
770	11.8
771	13.3
776	12.7
782	13.4
785	11.3	D785N
786	11.6
787	15
788	12.3
789	9.3	V789I
790	13.1
792	12.5
793	11.9
814	13.5	R814Q
817	14.4