Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7551 | 22876;22877;22878 | chr2:178722012;178722011;178722010 | chr2:179586739;179586738;179586737 |
| N2AB | 7234 | 21925;21926;21927 | chr2:178722012;178722011;178722010 | chr2:179586739;179586738;179586737 |
| N2A | 6307 | 19144;19145;19146 | chr2:178722012;178722011;178722010 | chr2:179586739;179586738;179586737 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/E | rs371736246  |
-0.329 | 0.002 | N | 0.208 | 0.072 | 0.171388866994 | gnomAD-2.1.1 | 2.01E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.54E-05 | None | 0 | 2.66E-05 | 0 |
| D/E | rs371736246 |
-0.329 | 0.002 | N | 0.208 | 0.072 | 0.171388866994 | 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 |
| D/E | rs371736246 |
-0.329 | 0.002 | N | 0.208 | 0.072 | 0.171388866994 | gnomAD-4.0.0 | 9.91682E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.18686E-05 | 2.19679E-05 | 0 |
| D/V | None | None | 0.962 | N | 0.711 | 0.405 | 0.493695379898 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 6.33473E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/Y | None | None | 0.999 | N | 0.691 | 0.434 | 0.57674044448 | gnomAD-4.0.0 | 1.59202E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85987E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.5501 | ambiguous | 0.6016 | pathogenic | -0.73 | Destabilizing | 0.85 | D | 0.583 | neutral | N | 0.463510609 | None | None | N |
| D/C | 0.9177 | likely_pathogenic | 0.9278 | pathogenic | -0.193 | Destabilizing | 0.994 | D | 0.679 | prob.neutral | None | None | None | None | N |
| D/E | 0.3186 | likely_benign | 0.3562 | ambiguous | -0.574 | Destabilizing | 0.002 | N | 0.208 | neutral | N | 0.509680386 | None | None | N |
| D/F | 0.8977 | likely_pathogenic | 0.9177 | pathogenic | -0.482 | Destabilizing | 1.0 | D | 0.69 | prob.neutral | None | None | None | None | N |
| D/G | 0.2442 | likely_benign | 0.278 | benign | -1.006 | Destabilizing | 0.804 | D | 0.556 | neutral | N | 0.513950056 | None | None | N |
| D/H | 0.7494 | likely_pathogenic | 0.7993 | pathogenic | -0.638 | Destabilizing | 0.995 | D | 0.619 | neutral | N | 0.508619889 | None | None | N |
| D/I | 0.8977 | likely_pathogenic | 0.9212 | pathogenic | -0.02 | Destabilizing | 0.995 | D | 0.715 | prob.delet. | None | None | None | None | N |
| D/K | 0.8615 | likely_pathogenic | 0.8911 | pathogenic | -0.19 | Destabilizing | 0.931 | D | 0.571 | neutral | None | None | None | None | N |
| D/L | 0.8424 | likely_pathogenic | 0.866 | pathogenic | -0.02 | Destabilizing | 0.989 | D | 0.713 | prob.delet. | None | None | None | None | N |
| D/M | 0.9305 | likely_pathogenic | 0.9474 | pathogenic | 0.417 | Stabilizing | 0.999 | D | 0.677 | prob.neutral | None | None | None | None | N |
| D/N | 0.1585 | likely_benign | 0.1907 | benign | -0.594 | Destabilizing | 0.073 | N | 0.249 | neutral | N | 0.41097483 | None | None | N |
| D/P | 0.9897 | likely_pathogenic | 0.9913 | pathogenic | -0.234 | Destabilizing | 0.791 | D | 0.631 | neutral | None | None | None | None | N |
| D/Q | 0.7438 | likely_pathogenic | 0.7938 | pathogenic | -0.513 | Destabilizing | 0.946 | D | 0.563 | neutral | None | None | None | None | N |
| D/R | 0.8561 | likely_pathogenic | 0.885 | pathogenic | -0.029 | Destabilizing | 0.989 | D | 0.674 | neutral | None | None | None | None | N |
| D/S | 0.3836 | ambiguous | 0.4456 | ambiguous | -0.759 | Destabilizing | 0.882 | D | 0.482 | neutral | None | None | None | None | N |
| D/T | 0.8146 | likely_pathogenic | 0.855 | pathogenic | -0.533 | Destabilizing | 0.921 | D | 0.585 | neutral | None | None | None | None | N |
| D/V | 0.7593 | likely_pathogenic | 0.7982 | pathogenic | -0.234 | Destabilizing | 0.962 | D | 0.711 | prob.delet. | N | 0.480894076 | None | None | N |
| D/W | 0.9761 | likely_pathogenic | 0.9811 | pathogenic | -0.259 | Destabilizing | 1.0 | D | 0.672 | neutral | None | None | None | None | N |
| D/Y | 0.5571 | ambiguous | 0.5915 | pathogenic | -0.24 | Destabilizing | 0.999 | D | 0.691 | prob.neutral | N | 0.520229684 | 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.