Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19275 | 58048;58049;58050 | chr2:178595531;178595530;178595529 | chr2:179460258;179460257;179460256 |
| N2AB | 17634 | 53125;53126;53127 | chr2:178595531;178595530;178595529 | chr2:179460258;179460257;179460256 |
| N2A | 16707 | 50344;50345;50346 | chr2:178595531;178595530;178595529 | chr2:179460258;179460257;179460256 |
| N2B | 10210 | 30853;30854;30855 | chr2:178595531;178595530;178595529 | chr2:179460258;179460257;179460256 |
| Novex-1 | 10335 | 31228;31229;31230 | chr2:178595531;178595530;178595529 | chr2:179460258;179460257;179460256 |
| Novex-2 | 10402 | 31429;31430;31431 | chr2:178595531;178595530;178595529 | chr2:179460258;179460257;179460256 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/E | rs866449199  |
None | None | N | 0.272 | 0.126 | 0.154104182512 | gnomAD-4.0.0 | 1.73896E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 3.01586E-05 | None | 0 | 0 | 0 | 0 | 0 |
| A/T | None | None | 0.026 | N | 0.389 | 0.14 | 0.148003135375 | gnomAD-4.0.0 | 2.83868E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.76861E-06 | 1.25175E-05 | 0 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.4581 | ambiguous | 0.464 | ambiguous | -0.613 | Destabilizing | 0.747 | D | 0.519 | neutral | None | None | None | None | N |
| A/D | 0.3231 | likely_benign | 0.4212 | ambiguous | 0.015 | Stabilizing | 0.007 | N | 0.386 | neutral | None | None | None | None | N |
| A/E | 0.1251 | likely_benign | 0.199 | benign | -0.065 | Destabilizing | None | N | 0.272 | neutral | N | 0.440575379 | None | None | N |
| A/F | 0.4529 | ambiguous | 0.5639 | ambiguous | -0.558 | Destabilizing | 0.112 | N | 0.551 | neutral | None | None | None | None | N |
| A/G | 0.1519 | likely_benign | 0.1628 | benign | -0.524 | Destabilizing | 0.011 | N | 0.333 | neutral | N | 0.470204852 | None | None | N |
| A/H | 0.5055 | ambiguous | 0.5759 | pathogenic | -0.562 | Destabilizing | 0.204 | N | 0.542 | neutral | None | None | None | None | N |
| A/I | 0.2397 | likely_benign | 0.2861 | benign | -0.045 | Destabilizing | 0.018 | N | 0.513 | neutral | None | None | None | None | N |
| A/K | 0.3611 | ambiguous | 0.4744 | ambiguous | -0.621 | Destabilizing | 0.007 | N | 0.369 | neutral | None | None | None | None | N |
| A/L | 0.2077 | likely_benign | 0.2473 | benign | -0.045 | Destabilizing | 0.007 | N | 0.358 | neutral | None | None | None | None | N |
| A/M | 0.2162 | likely_benign | 0.2521 | benign | -0.203 | Destabilizing | 0.001 | N | 0.323 | neutral | None | None | None | None | N |
| A/N | 0.267 | likely_benign | 0.2941 | benign | -0.298 | Destabilizing | 0.035 | N | 0.549 | neutral | None | None | None | None | N |
| A/P | 0.0934 | likely_benign | 0.0868 | benign | -0.104 | Destabilizing | None | N | 0.253 | neutral | N | 0.343798193 | None | None | N |
| A/Q | 0.239 | likely_benign | 0.2985 | benign | -0.448 | Destabilizing | 0.018 | N | 0.506 | neutral | None | None | None | None | N |
| A/R | 0.389 | ambiguous | 0.51 | ambiguous | -0.33 | Destabilizing | 0.018 | N | 0.553 | neutral | None | None | None | None | N |
| A/S | 0.1056 | likely_benign | 0.1093 | benign | -0.673 | Destabilizing | 0.006 | N | 0.391 | neutral | N | 0.431513178 | None | None | N |
| A/T | 0.1047 | likely_benign | 0.1207 | benign | -0.649 | Destabilizing | 0.026 | N | 0.389 | neutral | N | 0.440498021 | None | None | N |
| A/V | 0.1306 | likely_benign | 0.1524 | benign | -0.104 | Destabilizing | 0.006 | N | 0.327 | neutral | N | 0.432606469 | None | None | N |
| A/W | 0.7932 | likely_pathogenic | 0.8718 | pathogenic | -0.814 | Destabilizing | 0.747 | D | 0.649 | prob.neutral | None | None | None | None | N |
| A/Y | 0.5215 | ambiguous | 0.625 | pathogenic | -0.409 | Destabilizing | 0.439 | N | 0.539 | 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.