C1272Y Summary

SCN5A C1272Y was found in 0 papers (see below) with a total of 0 carriers: 0 had BrS1, 0 had LQT3, and 0 had other disease. C1272Y is not present in gnomAD. C1272Y has been functionally characterized in 0 papers. Other variants at the same resdue are C1272F .C1272G .C1272R .C1272S .C1272S .C1272W .C1272Y . This residue is located in a Mild_Hotspot region for BrS1 and in a Non_Hotspot region for Long QT syndrome.

C1272Y 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	0.912

C1272Y has 46 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
1207	14.9
1208	13.2	E1208K
1211	13
1212	14.3	p.I1212del
1215	14.2	I1215V
1250	12.2
1251	13.9	V1251M
1252	14.6
1253	10.3
1254	8.6
1255	13.1
1256	12.7
1257	7.5
1258	9.2
1259	13.1
1260	12
1261	7.7
1262	9.5	G1262S
1263	10.5
1264	12.2
1265	9.3
1266	4
1267	7.1
1268	7.6
1269	4.3	N1269S
1270	5.5
1271	6.4
1273	6.5
1274	6.7
1275	5.5	D1275N
1276	7.7
1277	9.4
1278	10.2	I1278N
1279	11.1	V1279I
1280	12.5
1281	15	V1281F
1305	13.8
1306	14.8	R1306H
1308	12.3	L1308F
1309	9.6	R1309H
1310	13.3
1311	12.3
1312	9
1313	13
1315	13.1
1316	13.2	R1316Q