Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6827 | 20704;20705;20706 | chr2:178725843;178725842;178725841 | chr2:179590570;179590569;179590568 |
| N2AB | 6510 | 19753;19754;19755 | chr2:178725843;178725842;178725841 | chr2:179590570;179590569;179590568 |
| N2A | 5583 | 16972;16973;16974 | chr2:178725843;178725842;178725841 | chr2:179590570;179590569;179590568 |
| 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 | rs368033114  |
-0.173 | 1.0 | D | 0.581 | 0.712 | 0.667860626873 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| D/E | rs368033114 |
-0.173 | 1.0 | D | 0.581 | 0.712 | 0.667860626873 | gnomAD-4.0.0 | 6.84449E-06 | None | None | None | None | N | None | 2.99115E-05 | 0 | None | 0 | 0 | None | 0 | 1.73732E-04 | 5.39815E-06 | 0 | 3.31488E-05 |
| D/G | rs911478772 |
None | 1.0 | D | 0.819 | 0.903 | 0.701507519776 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| D/G | rs911478772 |
None | 1.0 | D | 0.819 | 0.903 | 0.701507519776 | gnomAD-4.0.0 | 1.42092E-05 | None | None | None | None | N | None | 1.74685E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.44592E-05 | 0 | 3.40252E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.9403 | likely_pathogenic | 0.9244 | pathogenic | 0.086 | Stabilizing | 1.0 | D | 0.866 | deleterious | D | 0.628085294 | None | None | N |
| D/C | 0.9849 | likely_pathogenic | 0.9814 | pathogenic | 0.214 | Stabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| D/E | 0.8733 | likely_pathogenic | 0.8756 | pathogenic | -0.654 | Destabilizing | 1.0 | D | 0.581 | neutral | D | 0.60853346 | None | None | N |
| D/F | 0.9936 | likely_pathogenic | 0.9927 | pathogenic | 0.66 | Stabilizing | 1.0 | D | 0.888 | deleterious | None | None | None | None | N |
| D/G | 0.9586 | likely_pathogenic | 0.9421 | pathogenic | -0.37 | Destabilizing | 1.0 | D | 0.819 | deleterious | D | 0.640127495 | None | None | N |
| D/H | 0.9467 | likely_pathogenic | 0.9485 | pathogenic | 0.298 | Stabilizing | 1.0 | D | 0.867 | deleterious | D | 0.59296771 | None | None | N |
| D/I | 0.987 | likely_pathogenic | 0.9865 | pathogenic | 1.313 | Stabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| D/K | 0.9904 | likely_pathogenic | 0.9903 | pathogenic | 0.22 | Stabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| D/L | 0.9855 | likely_pathogenic | 0.9849 | pathogenic | 1.313 | Stabilizing | 1.0 | D | 0.88 | deleterious | None | None | None | None | N |
| D/M | 0.9932 | likely_pathogenic | 0.9931 | pathogenic | 1.778 | Stabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| D/N | 0.799 | likely_pathogenic | 0.75 | pathogenic | -0.633 | Destabilizing | 1.0 | D | 0.798 | deleterious | D | 0.610219334 | None | None | N |
| D/P | 0.9977 | likely_pathogenic | 0.9972 | pathogenic | 0.933 | Stabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | N |
| D/Q | 0.9812 | likely_pathogenic | 0.9797 | pathogenic | -0.306 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| D/R | 0.9912 | likely_pathogenic | 0.9905 | pathogenic | 0.186 | Stabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| D/S | 0.8763 | likely_pathogenic | 0.8367 | pathogenic | -0.899 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | N |
| D/T | 0.9712 | likely_pathogenic | 0.9663 | pathogenic | -0.47 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| D/V | 0.9601 | likely_pathogenic | 0.958 | pathogenic | 0.933 | Stabilizing | 1.0 | D | 0.88 | deleterious | D | 0.666069215 | None | None | N |
| D/W | 0.9988 | likely_pathogenic | 0.9987 | pathogenic | 0.758 | Stabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| D/Y | 0.96 | likely_pathogenic | 0.9555 | pathogenic | 0.95 | Stabilizing | 1.0 | D | 0.889 | deleterious | D | 0.649615885 | 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.