Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8036 | 24331;24332;24333 | chr2:178719284;178719283;178719282 | chr2:179584011;179584010;179584009 |
| N2AB | 7719 | 23380;23381;23382 | chr2:178719284;178719283;178719282 | chr2:179584011;179584010;179584009 |
| N2A | 6792 | 20599;20600;20601 | chr2:178719284;178719283;178719282 | chr2:179584011;179584010;179584009 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
Reported SAVs
| SNV | RS | DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/L | rs200598509  |
0.134 | None | N | 0.112 | 0.116 | None | gnomAD-2.1.1 | 7.24E-05 | None | None | None | None | N | None | 0 | 8.69E-05 | None | 0 | 0 | None | 0 | None | 0 | 1.24387E-04 | 1.65618E-04 |
| S/L | rs200598509 |
0.134 | None | N | 0.112 | 0.116 | None | gnomAD-3.1.2 | 4.6E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 8.82E-05 | 0 | 0 |
| S/L | rs200598509 |
0.134 | None | N | 0.112 | 0.116 | None | gnomAD-4.0.0 | 5.82499E-05 | None | None | None | None | N | None | 3.99979E-05 | 4.9995E-05 | None | 0 | 0 | None | 0 | 3.9604E-03 | 5.08583E-05 | 2.19592E-05 | 3.20113E-05 |
Saturation Mutagenesis
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0789 | likely_benign | 0.073 | benign | -0.296 | Destabilizing | None | N | 0.093 | neutral | N | 0.494482513 | None | None | N |
| S/C | 0.1354 | likely_benign | 0.1287 | benign | -0.304 | Destabilizing | 0.356 | N | 0.349 | neutral | None | None | None | None | N |
| S/D | 0.2898 | likely_benign | 0.2669 | benign | 0.359 | Stabilizing | 0.016 | N | 0.171 | neutral | None | None | None | None | N |
| S/E | 0.3531 | ambiguous | 0.3259 | benign | 0.272 | Stabilizing | None | N | 0.149 | neutral | None | None | None | None | N |
| S/F | 0.1284 | likely_benign | 0.1292 | benign | -0.885 | Destabilizing | None | N | 0.241 | neutral | None | None | None | None | N |
| S/G | 0.1096 | likely_benign | 0.1056 | benign | -0.406 | Destabilizing | 0.016 | N | 0.196 | neutral | None | None | None | None | N |
| S/H | 0.2142 | likely_benign | 0.2137 | benign | -0.802 | Destabilizing | 0.628 | D | 0.347 | neutral | None | None | None | None | N |
| S/I | 0.141 | likely_benign | 0.132 | benign | -0.14 | Destabilizing | 0.016 | N | 0.281 | neutral | None | None | None | None | N |
| S/K | 0.4263 | ambiguous | 0.4003 | ambiguous | -0.38 | Destabilizing | 0.031 | N | 0.175 | neutral | None | None | None | None | N |
| S/L | 0.078 | likely_benign | 0.0773 | benign | -0.14 | Destabilizing | None | N | 0.112 | neutral | N | 0.481708004 | None | None | N |
| S/M | 0.1779 | likely_benign | 0.1731 | benign | -0.077 | Destabilizing | 0.214 | N | 0.365 | neutral | None | None | None | None | N |
| S/N | 0.1472 | likely_benign | 0.1402 | benign | -0.141 | Destabilizing | 0.072 | N | 0.196 | neutral | None | None | None | None | N |
| S/P | 0.3654 | ambiguous | 0.3327 | benign | -0.163 | Destabilizing | 0.055 | N | 0.423 | neutral | N | 0.521207755 | None | None | N |
| S/Q | 0.3316 | likely_benign | 0.3286 | benign | -0.338 | Destabilizing | 0.072 | N | 0.264 | neutral | None | None | None | None | N |
| S/R | 0.3308 | likely_benign | 0.3045 | benign | -0.182 | Destabilizing | 0.072 | N | 0.383 | neutral | None | None | None | None | N |
| S/T | 0.077 | likely_benign | 0.0774 | benign | -0.253 | Destabilizing | None | N | 0.13 | neutral | N | 0.46381289 | None | None | N |
| S/V | 0.1465 | likely_benign | 0.1355 | benign | -0.163 | Destabilizing | 0.016 | N | 0.263 | neutral | None | None | None | None | N |
| S/W | 0.203 | likely_benign | 0.207 | benign | -0.923 | Destabilizing | 0.924 | D | 0.406 | neutral | N | 0.499103458 | None | None | N |
| S/Y | 0.135 | likely_benign | 0.1273 | benign | -0.623 | Destabilizing | 0.038 | N | 0.439 | neutral | None | None | None | None | N |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.