Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30773 | 92542;92543;92544 | chr2:178549309;178549308;178549307 | chr2:179414036;179414035;179414034 |
| N2AB | 29132 | 87619;87620;87621 | chr2:178549309;178549308;178549307 | chr2:179414036;179414035;179414034 |
| N2A | 28205 | 84838;84839;84840 | chr2:178549309;178549308;178549307 | chr2:179414036;179414035;179414034 |
| N2B | 21708 | 65347;65348;65349 | chr2:178549309;178549308;178549307 | chr2:179414036;179414035;179414034 |
| Novex-1 | 21833 | 65722;65723;65724 | chr2:178549309;178549308;178549307 | chr2:179414036;179414035;179414034 |
| Novex-2 | 21900 | 65923;65924;65925 | chr2:178549309;178549308;178549307 | chr2:179414036;179414035;179414034 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/Q | rs776649477  |
0.12 | 0.981 | N | 0.501 | 0.186 | 0.199424873507 | gnomAD-2.1.1 | 8.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.11309E-04 | None | 0 | None | 0 | 0 | 0 |
| R/Q | rs776649477 |
0.12 | 0.981 | N | 0.501 | 0.186 | 0.199424873507 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| R/Q | rs776649477 |
0.12 | 0.981 | N | 0.501 | 0.186 | 0.199424873507 | gnomAD-4.0.0 | 6.19659E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.22777E-05 | None | 0 | 0 | 6.78056E-06 | 0 | 1.60092E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.4655 | ambiguous | 0.341 | ambiguous | 0.034 | Stabilizing | 0.775 | D | 0.518 | neutral | None | None | None | None | N |
| R/C | 0.2244 | likely_benign | 0.1662 | benign | -0.294 | Destabilizing | 0.996 | D | 0.63 | neutral | None | None | None | None | N |
| R/D | 0.7095 | likely_pathogenic | 0.5731 | pathogenic | -0.337 | Destabilizing | 0.923 | D | 0.488 | neutral | None | None | None | None | N |
| R/E | 0.4552 | ambiguous | 0.3463 | ambiguous | -0.305 | Destabilizing | 0.633 | D | 0.502 | neutral | None | None | None | None | N |
| R/F | 0.5152 | ambiguous | 0.402 | ambiguous | -0.329 | Destabilizing | 0.923 | D | 0.596 | neutral | None | None | None | None | N |
| R/G | 0.2934 | likely_benign | 0.1981 | benign | -0.083 | Destabilizing | 0.868 | D | 0.512 | neutral | N | 0.46097208 | None | None | N |
| R/H | 0.1117 | likely_benign | 0.0907 | benign | -0.598 | Destabilizing | 0.024 | N | 0.277 | neutral | None | None | None | None | N |
| R/I | 0.2978 | likely_benign | 0.2143 | benign | 0.293 | Stabilizing | 0.961 | D | 0.589 | neutral | None | None | None | None | N |
| R/K | 0.0982 | likely_benign | 0.0878 | benign | -0.21 | Destabilizing | 0.011 | N | 0.222 | neutral | None | None | None | None | N |
| R/L | 0.2622 | likely_benign | 0.1885 | benign | 0.293 | Stabilizing | 0.868 | D | 0.493 | neutral | N | 0.469074276 | None | None | N |
| R/M | 0.2984 | likely_benign | 0.2107 | benign | -0.137 | Destabilizing | 0.996 | D | 0.498 | neutral | None | None | None | None | N |
| R/N | 0.5603 | ambiguous | 0.4235 | ambiguous | -0.155 | Destabilizing | 0.633 | D | 0.491 | neutral | None | None | None | None | N |
| R/P | 0.6795 | likely_pathogenic | 0.5455 | ambiguous | 0.223 | Stabilizing | 0.979 | D | 0.575 | neutral | N | 0.521444536 | None | None | N |
| R/Q | 0.1128 | likely_benign | 0.0916 | benign | -0.167 | Destabilizing | 0.981 | D | 0.501 | neutral | N | 0.468516915 | None | None | N |
| R/S | 0.5384 | ambiguous | 0.3994 | ambiguous | -0.286 | Destabilizing | 0.775 | D | 0.517 | neutral | None | None | None | None | N |
| R/T | 0.3038 | likely_benign | 0.2125 | benign | -0.159 | Destabilizing | 0.775 | D | 0.474 | neutral | None | None | None | None | N |
| R/V | 0.376 | ambiguous | 0.2893 | benign | 0.223 | Stabilizing | 0.961 | D | 0.585 | neutral | None | None | None | None | N |
| R/W | 0.1888 | likely_benign | 0.1431 | benign | -0.554 | Destabilizing | 0.996 | D | 0.656 | neutral | None | None | None | None | N |
| R/Y | 0.3496 | ambiguous | 0.2702 | benign | -0.151 | Destabilizing | 0.858 | D | 0.571 | 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.