C139S Summary

SCN5A C139S was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. C139S is not present in gnomAD. C139S has been functionally characterized in 0 papers. Other variants at the same resdue are C139F .C139G .C139R .C139S .C139S .C139W .C139Y .p.I137_C139dup . This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

C139S 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	0.791

C139S has 36 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
130	13.9
131	11.7
132	9.7
133	10.3
134	9.4
135	6.6
136	5.4	L136P
137	6.3	I137V
138	5.3
140	4.8
141	6.4	I141N I141V
142	5.3
143	6.4
144	9.8
145	10.1
146	10.9	V146A V146M
147	13.1
148	14.2
160	14.1
163	13.3
164	10.4
165	14.8
166	14.7	A166T
167	10.8
168	11.2
170	15
171	12.6
225	11.4	R225Q R225W
226	11.9	A226V
227	14.9	L227P
228	11.6
229	10
230	14.2	I230T I230V
231	12.4
232	10.4	V232I
233	14.4