Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8346 | 25261;25262;25263 | chr2:178717970;178717969;178717968 | chr2:179582697;179582696;179582695 |
| N2AB | 8029 | 24310;24311;24312 | chr2:178717970;178717969;178717968 | chr2:179582697;179582696;179582695 |
| N2A | 7102 | 21529;21530;21531 | chr2:178717970;178717969;178717968 | chr2:179582697;179582696;179582695 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/T | rs755302381  |
-0.515 | 0.008 | N | 0.199 | 0.118 | 0.194818534648 | gnomAD-2.1.1 | 2.01E-05 | None | None | None | None | I | None | 0 | 5.8E-05 | None | 0 | 0 | None | 0 | None | 0 | 2.67E-05 | 0 |
| A/T | rs755302381 |
-0.515 | 0.008 | N | 0.199 | 0.118 | 0.194818534648 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | I | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.77555E-04 |
| A/T | rs755302381 |
-0.515 | 0.008 | N | 0.199 | 0.118 | 0.194818534648 | gnomAD-4.0.0 | 8.06179E-06 | None | None | None | None | I | None | 1.33536E-05 | 6.67045E-05 | None | 0 | 0 | None | 0 | 1.64636E-04 | 5.08983E-06 | 0 | 1.60241E-05 |
| A/V | rs747055472 |
-0.077 | 0.002 | N | 0.193 | 0.14 | 0.40017627803 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 5.56E-05 | None | 0 | None | 0 | 0 | 0 |
| A/V | rs747055472 |
-0.077 | 0.002 | N | 0.193 | 0.14 | 0.40017627803 | gnomAD-4.0.0 | 1.5941E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.77485E-05 | None | 0 | 0 | 0 | 0 | 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 | 0.4313 | ambiguous | 0.4734 | ambiguous | -0.778 | Destabilizing | 0.776 | D | 0.481 | neutral | None | None | None | None | I |
| A/D | 0.2224 | likely_benign | 0.2819 | benign | -0.156 | Destabilizing | 0.269 | N | 0.524 | neutral | N | 0.416925807 | None | None | I |
| A/E | 0.1924 | likely_benign | 0.2219 | benign | -0.271 | Destabilizing | 0.406 | N | 0.491 | neutral | None | None | None | None | I |
| A/F | 0.2091 | likely_benign | 0.2373 | benign | -0.806 | Destabilizing | 0.865 | D | 0.599 | neutral | None | None | None | None | I |
| A/G | 0.1537 | likely_benign | 0.185 | benign | -0.51 | Destabilizing | 0.007 | N | 0.399 | neutral | N | 0.494213154 | None | None | I |
| A/H | 0.3417 | ambiguous | 0.3933 | ambiguous | -0.49 | Destabilizing | 0.975 | D | 0.535 | neutral | None | None | None | None | I |
| A/I | 0.1631 | likely_benign | 0.1996 | benign | -0.273 | Destabilizing | 0.239 | N | 0.487 | neutral | None | None | None | None | I |
| A/K | 0.4009 | ambiguous | 0.4566 | ambiguous | -0.645 | Destabilizing | 0.024 | N | 0.303 | neutral | None | None | None | None | I |
| A/L | 0.1402 | likely_benign | 0.1713 | benign | -0.273 | Destabilizing | 0.274 | N | 0.409 | neutral | None | None | None | None | I |
| A/M | 0.1822 | likely_benign | 0.2135 | benign | -0.39 | Destabilizing | 0.141 | N | 0.343 | neutral | None | None | None | None | I |
| A/N | 0.1977 | likely_benign | 0.2353 | benign | -0.352 | Destabilizing | 0.054 | N | 0.517 | neutral | None | None | None | None | I |
| A/P | 0.4638 | ambiguous | 0.6319 | pathogenic | -0.276 | Destabilizing | 0.655 | D | 0.52 | neutral | N | 0.505160867 | None | None | I |
| A/Q | 0.2709 | likely_benign | 0.3067 | benign | -0.553 | Destabilizing | 0.646 | D | 0.563 | neutral | None | None | None | None | I |
| A/R | 0.329 | likely_benign | 0.3856 | ambiguous | -0.257 | Destabilizing | 0.477 | N | 0.515 | neutral | None | None | None | None | I |
| A/S | 0.0766 | likely_benign | 0.0788 | benign | -0.661 | Destabilizing | None | N | 0.253 | neutral | N | 0.331690979 | None | None | I |
| A/T | 0.07 | likely_benign | 0.0746 | benign | -0.676 | Destabilizing | 0.008 | N | 0.199 | neutral | N | 0.382925089 | None | None | I |
| A/V | 0.099 | likely_benign | 0.1148 | benign | -0.276 | Destabilizing | 0.002 | N | 0.193 | neutral | N | 0.418792676 | None | None | I |
| A/W | 0.5911 | likely_pathogenic | 0.6537 | pathogenic | -0.983 | Destabilizing | 0.993 | D | 0.567 | neutral | None | None | None | None | I |
| A/Y | 0.3096 | likely_benign | 0.3563 | ambiguous | -0.615 | Destabilizing | 0.928 | D | 0.563 | neutral | None | None | None | None | I |
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.