A124P Summary

SCN5A A124P was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. A124P is not present in gnomAD. A124P has been functionally characterized in 0 papers. Other variants at the same resdue are A124D .A124G .A124P .A124S .A124T .A124V . This residue is located in a Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

A124P 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	0.889

A124P has 37 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
114	11.2
115	12.3
116	11.7
117	13.8
118	10.5
119	9.1	P119L P119S
120	6.7
121	6.2	R121Q R121W
122	8.1
123	3.6	A123V
125	4	V125L V125L
126	6
127	4.7
128	6.4
129	8.4
130	10.4
131	13.6
132	13.6
133	9.6
134	12.4
136	14.9	L136P
137	14.4	I137V
169	14.3
170	9.5
171	11.1
172	11.4
173	8.9
174	5.6
175	9.3
176	10
177	6.4
178	6
179	9.3	R179Q
180	11.4
181	14.8
184	14.2
188	14.4