A107G Summary

SCN5A A107G was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A107G is not present in gnomAD. A107G has been functionally characterized in 0 papers. Other variants at the same resdue are A107D .A107G .A107P .A107S .A107T .A107V . This residue is located in a Mild_Hotspot region for BrS1 and in a Mild_Hotspot region for Long QT syndrome.

A107G 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	0.893

A107G 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
92	14.7	T92I
93	14.2	F93S
94	13.7	I94V
95	13.2	V95I V95L V95L
96	12.6
97	12
98	11.4
99	10.7
100	10.1
101	9.3
102	8.5
103	7.6
104	6.6	R104Q R104W
105	5.4
106	3.8
108	3.8
109	5.4	N109K N109K
110	6.6	A110T
111	7.6
112	8.5
113	9.3
114	10.1
115	10.7
116	11.4
117	12
118	12.6
119	13.2	P119L P119S
120	13.7
121	14.2	R121Q R121W
122	14.7