Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17371 | 52336;52337;52338 | chr2:178608900;178608899;178608898 | chr2:179473627;179473626;179473625 |
| N2AB | 15730 | 47413;47414;47415 | chr2:178608900;178608899;178608898 | chr2:179473627;179473626;179473625 |
| N2A | 14803 | 44632;44633;44634 | chr2:178608900;178608899;178608898 | chr2:179473627;179473626;179473625 |
| N2B | 8306 | 25141;25142;25143 | chr2:178608900;178608899;178608898 | chr2:179473627;179473626;179473625 |
| Novex-1 | 8431 | 25516;25517;25518 | chr2:178608900;178608899;178608898 | chr2:179473627;179473626;179473625 |
| Novex-2 | 8498 | 25717;25718;25719 | chr2:178608900;178608899;178608898 | chr2:179473627;179473626;179473625 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/E | rs794729455  |
None | 1.0 | N | 0.826 | 0.541 | 0.463843524616 | gnomAD-4.0.0 | 1.37356E-05 | None | None | None | None | I | None | 0 | 0 | None | 3.83524E-05 | 0 | None | 0 | 0 | 1.4402E-05 | 0 | 4.98206E-05 |
| G/V | None | None | 1.0 | N | 0.867 | 0.544 | 0.560190409015 | gnomAD-4.0.0 | 2.74713E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.6005E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.4899 | ambiguous | 0.544 | ambiguous | -0.873 | Destabilizing | 0.998 | D | 0.571 | neutral | N | 0.485825735 | None | None | I |
| G/C | 0.8451 | likely_pathogenic | 0.8812 | pathogenic | -1.293 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | I |
| G/D | 0.9128 | likely_pathogenic | 0.9268 | pathogenic | -2.186 | Highly Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | I |
| G/E | 0.907 | likely_pathogenic | 0.9323 | pathogenic | -2.219 | Highly Destabilizing | 1.0 | D | 0.826 | deleterious | N | 0.511309823 | None | None | I |
| G/F | 0.9702 | likely_pathogenic | 0.9759 | pathogenic | -1.203 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | I |
| G/H | 0.9744 | likely_pathogenic | 0.9782 | pathogenic | -1.384 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | I |
| G/I | 0.9559 | likely_pathogenic | 0.9713 | pathogenic | -0.464 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | I |
| G/K | 0.9682 | likely_pathogenic | 0.9759 | pathogenic | -1.351 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | I |
| G/L | 0.9178 | likely_pathogenic | 0.936 | pathogenic | -0.464 | Destabilizing | 1.0 | D | 0.861 | deleterious | None | None | None | None | I |
| G/M | 0.9522 | likely_pathogenic | 0.9634 | pathogenic | -0.476 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | I |
| G/N | 0.914 | likely_pathogenic | 0.933 | pathogenic | -1.229 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | I |
| G/P | 0.9948 | likely_pathogenic | 0.9957 | pathogenic | -0.562 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | I |
| G/Q | 0.9217 | likely_pathogenic | 0.9403 | pathogenic | -1.455 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | I |
| G/R | 0.9416 | likely_pathogenic | 0.9565 | pathogenic | -1.021 | Destabilizing | 1.0 | D | 0.853 | deleterious | D | 0.52435165 | None | None | I |
| G/S | 0.4232 | ambiguous | 0.4559 | ambiguous | -1.399 | Destabilizing | 0.993 | D | 0.569 | neutral | None | None | None | None | I |
| G/T | 0.8365 | likely_pathogenic | 0.8718 | pathogenic | -1.371 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | I |
| G/V | 0.9194 | likely_pathogenic | 0.9465 | pathogenic | -0.562 | Destabilizing | 1.0 | D | 0.867 | deleterious | N | 0.507261353 | None | None | I |
| G/W | 0.9721 | likely_pathogenic | 0.9787 | pathogenic | -1.573 | Destabilizing | 1.0 | D | 0.778 | deleterious | None | None | None | None | I |
| G/Y | 0.9654 | likely_pathogenic | 0.9731 | pathogenic | -1.163 | Destabilizing | 1.0 | D | 0.848 | 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.