Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17053 | 51382;51383;51384 | chr2:178610369;178610368;178610367 | chr2:179475096;179475095;179475094 |
| N2AB | 15412 | 46459;46460;46461 | chr2:178610369;178610368;178610367 | chr2:179475096;179475095;179475094 |
| N2A | 14485 | 43678;43679;43680 | chr2:178610369;178610368;178610367 | chr2:179475096;179475095;179475094 |
| N2B | 7988 | 24187;24188;24189 | chr2:178610369;178610368;178610367 | chr2:179475096;179475095;179475094 |
| Novex-1 | 8113 | 24562;24563;24564 | chr2:178610369;178610368;178610367 | chr2:179475096;179475095;179475094 |
| Novex-2 | 8180 | 24763;24764;24765 | chr2:178610369;178610368;178610367 | chr2:179475096;179475095;179475094 |
| 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/G | None | None | 0.998 | N | 0.671 | 0.444 | 0.246773566709 | gnomAD-4.0.0 | 6.84705E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99957E-07 | 0 | 0 |
| D/H | rs1454197786  |
-0.167 | 1.0 | D | 0.823 | 0.354 | 0.32471235697 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| D/H | rs1454197786 |
-0.167 | 1.0 | D | 0.823 | 0.354 | 0.32471235697 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| D/H | rs1454197786 |
-0.167 | 1.0 | D | 0.823 | 0.354 | 0.32471235697 | gnomAD-4.0.0 | 2.0302E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.41005E-06 | 0 | 0 |
| D/V | rs768940034 |
0.311 | 0.999 | N | 0.837 | 0.51 | 0.598143334274 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| D/V | rs768940034 |
0.311 | 0.999 | N | 0.837 | 0.51 | 0.598143334274 | gnomAD-4.0.0 | 6.84705E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99957E-07 | 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 | 0.2115 | likely_benign | 0.2267 | benign | -0.266 | Destabilizing | 0.996 | D | 0.681 | prob.neutral | N | 0.481781895 | None | None | N |
| D/C | 0.7006 | likely_pathogenic | 0.7442 | pathogenic | -0.146 | Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | N |
| D/E | 0.1522 | likely_benign | 0.1696 | benign | -0.372 | Destabilizing | 0.767 | D | 0.191 | neutral | N | 0.468644463 | None | None | N |
| D/F | 0.6294 | likely_pathogenic | 0.6656 | pathogenic | -0.099 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| D/G | 0.1922 | likely_benign | 0.2141 | benign | -0.487 | Destabilizing | 0.998 | D | 0.671 | neutral | N | 0.472623577 | None | None | N |
| D/H | 0.4171 | ambiguous | 0.4431 | ambiguous | 0.083 | Stabilizing | 1.0 | D | 0.823 | deleterious | D | 0.524001303 | None | None | N |
| D/I | 0.4899 | ambiguous | 0.5263 | ambiguous | 0.274 | Stabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| D/K | 0.5701 | likely_pathogenic | 0.6063 | pathogenic | 0.114 | Stabilizing | 0.999 | D | 0.737 | prob.delet. | None | None | None | None | N |
| D/L | 0.4833 | ambiguous | 0.4983 | ambiguous | 0.274 | Stabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| D/M | 0.6129 | likely_pathogenic | 0.6365 | pathogenic | 0.304 | Stabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| D/N | 0.0827 | likely_benign | 0.0916 | benign | -0.204 | Destabilizing | 0.999 | D | 0.729 | prob.delet. | N | 0.449513474 | None | None | N |
| D/P | 0.9139 | likely_pathogenic | 0.9239 | pathogenic | 0.117 | Stabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| D/Q | 0.4252 | ambiguous | 0.4566 | ambiguous | -0.155 | Destabilizing | 0.999 | D | 0.801 | deleterious | None | None | None | None | N |
| D/R | 0.6356 | likely_pathogenic | 0.6612 | pathogenic | 0.377 | Stabilizing | 0.999 | D | 0.844 | deleterious | None | None | None | None | N |
| D/S | 0.1561 | likely_benign | 0.1768 | benign | -0.332 | Destabilizing | 0.997 | D | 0.612 | neutral | None | None | None | None | N |
| D/T | 0.2824 | likely_benign | 0.3258 | benign | -0.162 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | N |
| D/V | 0.3193 | likely_benign | 0.3301 | benign | 0.117 | Stabilizing | 0.999 | D | 0.837 | deleterious | N | 0.472547163 | None | None | N |
| D/W | 0.9191 | likely_pathogenic | 0.9304 | pathogenic | 0.042 | Stabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| D/Y | 0.2988 | likely_benign | 0.3231 | benign | 0.134 | Stabilizing | 1.0 | D | 0.854 | deleterious | D | 0.613557351 | 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.