Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24797 | 74614;74615;74616 | chr2:178571743;178571742;178571741 | chr2:179436470;179436469;179436468 |
| N2AB | 23156 | 69691;69692;69693 | chr2:178571743;178571742;178571741 | chr2:179436470;179436469;179436468 |
| N2A | 22229 | 66910;66911;66912 | chr2:178571743;178571742;178571741 | chr2:179436470;179436469;179436468 |
| N2B | 15732 | 47419;47420;47421 | chr2:178571743;178571742;178571741 | chr2:179436470;179436469;179436468 |
| Novex-1 | 15857 | 47794;47795;47796 | chr2:178571743;178571742;178571741 | chr2:179436470;179436469;179436468 |
| Novex-2 | 15924 | 47995;47996;47997 | chr2:178571743;178571742;178571741 | chr2:179436470;179436469;179436468 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/G | None | None | 0.999 | N | 0.632 | 0.517 | 0.60525595389 | gnomAD-4.0.0 | 1.36869E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79927E-06 | 0 | 0 |
| A/S | None | None | 0.999 | D | 0.635 | 0.345 | 0.495038369364 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.4235 | ambiguous | 0.4348 | ambiguous | -0.662 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | I |
| A/D | 0.3063 | likely_benign | 0.2836 | benign | -1.383 | Destabilizing | 1.0 | D | 0.835 | deleterious | N | 0.491500923 | None | None | I |
| A/E | 0.306 | likely_benign | 0.3024 | benign | -1.325 | Destabilizing | 1.0 | D | 0.822 | deleterious | None | None | None | None | I |
| A/F | 0.4397 | ambiguous | 0.4224 | ambiguous | -0.709 | Destabilizing | 1.0 | D | 0.848 | deleterious | None | None | None | None | I |
| A/G | 0.1741 | likely_benign | 0.1612 | benign | -1.126 | Destabilizing | 0.999 | D | 0.632 | neutral | N | 0.513942484 | None | None | I |
| A/H | 0.512 | ambiguous | 0.5049 | ambiguous | -1.392 | Destabilizing | 1.0 | D | 0.82 | deleterious | None | None | None | None | I |
| A/I | 0.2466 | likely_benign | 0.2399 | benign | 0.013 | Stabilizing | 0.91 | D | 0.461 | neutral | None | None | None | None | I |
| A/K | 0.4457 | ambiguous | 0.4452 | ambiguous | -1.104 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | I |
| A/L | 0.2663 | likely_benign | 0.2557 | benign | 0.013 | Stabilizing | 0.994 | D | 0.576 | neutral | None | None | None | None | I |
| A/M | 0.2267 | likely_benign | 0.2195 | benign | -0.015 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | I |
| A/N | 0.2573 | likely_benign | 0.2392 | benign | -1.021 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | I |
| A/P | 0.9532 | likely_pathogenic | 0.9396 | pathogenic | -0.212 | Destabilizing | 1.0 | D | 0.831 | deleterious | N | 0.500206321 | None | None | I |
| A/Q | 0.3763 | ambiguous | 0.3734 | ambiguous | -1.052 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | I |
| A/R | 0.4581 | ambiguous | 0.4526 | ambiguous | -0.896 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | I |
| A/S | 0.1061 | likely_benign | 0.1044 | benign | -1.381 | Destabilizing | 0.999 | D | 0.635 | neutral | D | 0.529557879 | None | None | I |
| A/T | 0.0799 | likely_benign | 0.079 | benign | -1.224 | Destabilizing | 0.999 | D | 0.767 | deleterious | N | 0.490655561 | None | None | I |
| A/V | 0.1222 | likely_benign | 0.1213 | benign | -0.212 | Destabilizing | 0.992 | D | 0.591 | neutral | N | 0.470701577 | None | None | I |
| A/W | 0.8382 | likely_pathogenic | 0.8333 | pathogenic | -1.265 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | I |
| A/Y | 0.5235 | ambiguous | 0.511 | ambiguous | -0.743 | Destabilizing | 1.0 | D | 0.844 | 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.