Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16612 | 50059;50060;50061 | chr2:178612887;178612886;178612885 | chr2:179477614;179477613;179477612 |
| N2AB | 14971 | 45136;45137;45138 | chr2:178612887;178612886;178612885 | chr2:179477614;179477613;179477612 |
| N2A | 14044 | 42355;42356;42357 | chr2:178612887;178612886;178612885 | chr2:179477614;179477613;179477612 |
| N2B | 7547 | 22864;22865;22866 | chr2:178612887;178612886;178612885 | chr2:179477614;179477613;179477612 |
| Novex-1 | 7672 | 23239;23240;23241 | chr2:178612887;178612886;178612885 | chr2:179477614;179477613;179477612 |
| Novex-2 | 7739 | 23440;23441;23442 | chr2:178612887;178612886;178612885 | chr2:179477614;179477613;179477612 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/F | rs750840061  |
-1.807 | 0.018 | N | 0.451 | 0.131 | 0.412328234245 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.93E-06 | 0 |
| L/F | rs750840061 |
-1.807 | 0.018 | N | 0.451 | 0.131 | 0.412328234245 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| L/F | rs750840061 |
-1.807 | 0.018 | N | 0.451 | 0.131 | 0.412328234245 | gnomAD-4.0.0 | 2.56628E-06 | None | None | None | None | N | None | 1.69451E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.39615E-06 | 0 | 0 |
| L/P | rs779177073 |
-1.884 | 0.983 | D | 0.826 | 0.562 | 0.833363992215 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 9.81E-05 | None | 0 | 0 | 0 |
| L/P | rs779177073 |
-1.884 | 0.983 | D | 0.826 | 0.562 | 0.833363992215 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| L/P | rs779177073 |
-1.884 | 0.983 | D | 0.826 | 0.562 | 0.833363992215 | gnomAD-4.0.0 | 7.69884E-06 | None | None | None | None | N | None | 1.6944E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.70403E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.8738 | likely_pathogenic | 0.8965 | pathogenic | -2.517 | Highly Destabilizing | 0.633 | D | 0.733 | prob.delet. | None | None | None | None | N |
| L/C | 0.8542 | likely_pathogenic | 0.8585 | pathogenic | -1.809 | Destabilizing | 0.996 | D | 0.747 | deleterious | None | None | None | None | N |
| L/D | 0.995 | likely_pathogenic | 0.9973 | pathogenic | -3.087 | Highly Destabilizing | 0.987 | D | 0.82 | deleterious | None | None | None | None | N |
| L/E | 0.9645 | likely_pathogenic | 0.9768 | pathogenic | -2.812 | Highly Destabilizing | 0.961 | D | 0.831 | deleterious | None | None | None | None | N |
| L/F | 0.532 | ambiguous | 0.5341 | ambiguous | -1.564 | Destabilizing | 0.018 | N | 0.451 | neutral | N | 0.507796327 | None | None | N |
| L/G | 0.9847 | likely_pathogenic | 0.9901 | pathogenic | -3.075 | Highly Destabilizing | 0.961 | D | 0.824 | deleterious | None | None | None | None | N |
| L/H | 0.9006 | likely_pathogenic | 0.9215 | pathogenic | -2.583 | Highly Destabilizing | 0.995 | D | 0.819 | deleterious | D | 0.542568236 | None | None | N |
| L/I | 0.1383 | likely_benign | 0.1206 | benign | -0.87 | Destabilizing | 0.008 | N | 0.358 | neutral | N | 0.447994294 | None | None | N |
| L/K | 0.9436 | likely_pathogenic | 0.9617 | pathogenic | -2.05 | Highly Destabilizing | 0.961 | D | 0.803 | deleterious | None | None | None | None | N |
| L/M | 0.3108 | likely_benign | 0.2962 | benign | -0.847 | Destabilizing | 0.923 | D | 0.671 | neutral | None | None | None | None | N |
| L/N | 0.9752 | likely_pathogenic | 0.9828 | pathogenic | -2.554 | Highly Destabilizing | 0.987 | D | 0.837 | deleterious | None | None | None | None | N |
| L/P | 0.9744 | likely_pathogenic | 0.9838 | pathogenic | -1.405 | Destabilizing | 0.983 | D | 0.826 | deleterious | D | 0.573523098 | None | None | N |
| L/Q | 0.8659 | likely_pathogenic | 0.9014 | pathogenic | -2.323 | Highly Destabilizing | 0.987 | D | 0.817 | deleterious | None | None | None | None | N |
| L/R | 0.9174 | likely_pathogenic | 0.9461 | pathogenic | -1.962 | Destabilizing | 0.949 | D | 0.791 | deleterious | D | 0.573523098 | None | None | N |
| L/S | 0.9612 | likely_pathogenic | 0.9702 | pathogenic | -3.183 | Highly Destabilizing | 0.923 | D | 0.791 | deleterious | None | None | None | None | N |
| L/T | 0.8973 | likely_pathogenic | 0.916 | pathogenic | -2.746 | Highly Destabilizing | 0.923 | D | 0.764 | deleterious | None | None | None | None | N |
| L/V | 0.1733 | likely_benign | 0.159 | benign | -1.405 | Destabilizing | 0.008 | N | 0.311 | neutral | N | 0.377346425 | None | None | N |
| L/W | 0.8884 | likely_pathogenic | 0.9097 | pathogenic | -1.935 | Destabilizing | 0.996 | D | 0.783 | deleterious | None | None | None | None | N |
| L/Y | 0.9046 | likely_pathogenic | 0.9134 | pathogenic | -1.636 | Destabilizing | 0.858 | D | 0.773 | deleterious | 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.