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 |