Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22306 | 67141;67142;67143 | chr2:178580463;178580462;178580461 | chr2:179445190;179445189;179445188 |
| N2AB | 20665 | 62218;62219;62220 | chr2:178580463;178580462;178580461 | chr2:179445190;179445189;179445188 |
| N2A | 19738 | 59437;59438;59439 | chr2:178580463;178580462;178580461 | chr2:179445190;179445189;179445188 |
| N2B | 13241 | 39946;39947;39948 | chr2:178580463;178580462;178580461 | chr2:179445190;179445189;179445188 |
| Novex-1 | 13366 | 40321;40322;40323 | chr2:178580463;178580462;178580461 | chr2:179445190;179445189;179445188 |
| Novex-2 | 13433 | 40522;40523;40524 | chr2:178580463;178580462;178580461 | chr2:179445190;179445189;179445188 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/F | None | None | 0.171 | N | 0.258 | 0.124 | 0.197625483188 | gnomAD-4.0.0 | 1.59274E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86069E-06 | 0 | 0 |
| I/N | None | None | 0.055 | N | 0.347 | 0.122 | 0.243972157842 | gnomAD-4.0.0 | 1.36895E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.31554E-05 |
| I/T | rs397517667  |
-0.377 | None | N | 0.205 | 0.096 | None | gnomAD-2.1.1 | 2.32447E-04 | None | None | None | None | N | None | 0 | 0 | None | 4.74163E-03 | 0 | None | 0 | None | 0 | 9.39E-05 | 5.63698E-04 |
| I/T | rs397517667 |
-0.377 | None | N | 0.205 | 0.096 | None | gnomAD-3.1.2 | 1.11844E-04 | None | None | None | None | N | None | 0 | 0 | 0 | 4.03458E-03 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 4.79386E-04 |
| I/T | rs397517667 |
-0.377 | None | N | 0.205 | 0.096 | None | gnomAD-4.0.0 | 1.14075E-04 | None | None | None | None | N | None | 0 | 0 | None | 4.32696E-03 | 0 | None | 0 | 0 | 2.79795E-05 | 0 | 3.68542E-04 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.0937 | likely_benign | 0.0992 | benign | -0.451 | Destabilizing | 0.016 | N | 0.306 | neutral | None | None | None | None | N |
| I/C | 0.3741 | ambiguous | 0.4152 | ambiguous | -0.845 | Destabilizing | 0.676 | D | 0.252 | neutral | None | None | None | None | N |
| I/D | 0.2919 | likely_benign | 0.3134 | benign | -0.215 | Destabilizing | 0.072 | N | 0.337 | neutral | None | None | None | None | N |
| I/E | 0.199 | likely_benign | 0.1862 | benign | -0.313 | Destabilizing | 0.016 | N | 0.325 | neutral | None | None | None | None | N |
| I/F | 0.1326 | likely_benign | 0.1475 | benign | -0.67 | Destabilizing | 0.171 | N | 0.258 | neutral | N | 0.405414294 | None | None | N |
| I/G | 0.2669 | likely_benign | 0.312 | benign | -0.525 | Destabilizing | 0.072 | N | 0.329 | neutral | None | None | None | None | N |
| I/H | 0.2363 | likely_benign | 0.2187 | benign | 0.055 | Stabilizing | 0.356 | N | 0.268 | neutral | None | None | None | None | N |
| I/K | 0.1511 | likely_benign | 0.1293 | benign | -0.328 | Destabilizing | 0.038 | N | 0.331 | neutral | None | None | None | None | N |
| I/L | 0.0836 | likely_benign | 0.085 | benign | -0.376 | Destabilizing | 0.005 | N | 0.199 | neutral | N | 0.445914122 | None | None | N |
| I/M | 0.0747 | likely_benign | 0.0743 | benign | -0.619 | Destabilizing | 0.171 | N | 0.277 | neutral | N | 0.435043768 | None | None | N |
| I/N | 0.108 | likely_benign | 0.1167 | benign | -0.202 | Destabilizing | 0.055 | N | 0.347 | neutral | N | 0.404027428 | None | None | N |
| I/P | 0.1539 | likely_benign | 0.1557 | benign | -0.375 | Destabilizing | 0.356 | N | 0.344 | neutral | None | None | None | None | N |
| I/Q | 0.1523 | likely_benign | 0.135 | benign | -0.38 | Destabilizing | None | N | 0.206 | neutral | None | None | None | None | N |
| I/R | 0.1374 | likely_benign | 0.1189 | benign | 0.115 | Stabilizing | 0.038 | N | 0.349 | neutral | None | None | None | None | N |
| I/S | 0.1091 | likely_benign | 0.1166 | benign | -0.581 | Destabilizing | 0.012 | N | 0.295 | neutral | N | 0.375339316 | None | None | N |
| I/T | 0.0782 | likely_benign | 0.0814 | benign | -0.583 | Destabilizing | None | N | 0.205 | neutral | N | 0.401853914 | None | None | N |
| I/V | 0.0606 | likely_benign | 0.0668 | benign | -0.375 | Destabilizing | None | N | 0.175 | neutral | N | 0.411974907 | None | None | N |
| I/W | 0.524 | ambiguous | 0.5179 | ambiguous | -0.679 | Destabilizing | 0.864 | D | 0.273 | neutral | None | None | None | None | N |
| I/Y | 0.2914 | likely_benign | 0.3021 | benign | -0.453 | Destabilizing | 0.356 | N | 0.3 | 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.