Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30502 | 91729;91730;91731 | chr2:178551027;178551026;178551025 | chr2:179415754;179415753;179415752 |
| N2AB | 28861 | 86806;86807;86808 | chr2:178551027;178551026;178551025 | chr2:179415754;179415753;179415752 |
| N2A | 27934 | 84025;84026;84027 | chr2:178551027;178551026;178551025 | chr2:179415754;179415753;179415752 |
| N2B | 21437 | 64534;64535;64536 | chr2:178551027;178551026;178551025 | chr2:179415754;179415753;179415752 |
| Novex-1 | 21562 | 64909;64910;64911 | chr2:178551027;178551026;178551025 | chr2:179415754;179415753;179415752 |
| Novex-2 | 21629 | 65110;65111;65112 | chr2:178551027;178551026;178551025 | chr2:179415754;179415753;179415752 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | None | None | 0.998 | N | 0.506 | 0.364 | 0.44711355012 | gnomAD-4.0.0 | 1.59216E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85935E-06 | 0 | 0 |
| V/I | rs745705323  |
0.026 | 0.767 | N | 0.328 | 0.208 | 0.312608672186 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| V/I | rs745705323 |
0.026 | 0.767 | N | 0.328 | 0.208 | 0.312608672186 | gnomAD-4.0.0 | 1.59221E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85941E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.2492 | likely_benign | 0.2363 | benign | -0.229 | Destabilizing | 0.998 | D | 0.506 | neutral | N | 0.400846341 | None | None | I |
| V/C | 0.8845 | likely_pathogenic | 0.8812 | pathogenic | -0.669 | Destabilizing | 1.0 | D | 0.766 | deleterious | None | None | None | None | I |
| V/D | 0.881 | likely_pathogenic | 0.8638 | pathogenic | -0.089 | Destabilizing | 1.0 | D | 0.842 | deleterious | N | 0.468975701 | None | None | I |
| V/E | 0.8286 | likely_pathogenic | 0.8151 | pathogenic | -0.214 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | I |
| V/F | 0.3981 | ambiguous | 0.4093 | ambiguous | -0.633 | Destabilizing | 0.999 | D | 0.771 | deleterious | N | 0.50122398 | None | None | I |
| V/G | 0.5173 | ambiguous | 0.4777 | ambiguous | -0.288 | Destabilizing | 1.0 | D | 0.809 | deleterious | D | 0.523577977 | None | None | I |
| V/H | 0.9053 | likely_pathogenic | 0.9042 | pathogenic | 0.035 | Stabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | I |
| V/I | 0.0968 | likely_benign | 0.1046 | benign | -0.228 | Destabilizing | 0.767 | D | 0.328 | neutral | N | 0.427187581 | None | None | I |
| V/K | 0.8593 | likely_pathogenic | 0.8498 | pathogenic | -0.15 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | I |
| V/L | 0.4313 | ambiguous | 0.4564 | ambiguous | -0.228 | Destabilizing | 0.981 | D | 0.533 | neutral | N | 0.485081091 | None | None | I |
| V/M | 0.3175 | likely_benign | 0.3453 | ambiguous | -0.299 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | I |
| V/N | 0.7071 | likely_pathogenic | 0.6908 | pathogenic | -0.003 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | I |
| V/P | 0.9045 | likely_pathogenic | 0.8908 | pathogenic | -0.198 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | I |
| V/Q | 0.7696 | likely_pathogenic | 0.7514 | pathogenic | -0.228 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | I |
| V/R | 0.7635 | likely_pathogenic | 0.7425 | pathogenic | 0.273 | Stabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | I |
| V/S | 0.4255 | ambiguous | 0.4008 | ambiguous | -0.328 | Destabilizing | 1.0 | D | 0.814 | deleterious | None | None | None | None | I |
| V/T | 0.329 | likely_benign | 0.3264 | benign | -0.358 | Destabilizing | 0.998 | D | 0.714 | prob.delet. | None | None | None | None | I |
| V/W | 0.9591 | likely_pathogenic | 0.96 | pathogenic | -0.701 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | I |
| V/Y | 0.8872 | likely_pathogenic | 0.8744 | pathogenic | -0.39 | Destabilizing | 1.0 | D | 0.781 | deleterious | 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.