Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21768 | 65527;65528;65529 | chr2:178583880;178583879;178583878 | chr2:179448607;179448606;179448605 |
| N2AB | 20127 | 60604;60605;60606 | chr2:178583880;178583879;178583878 | chr2:179448607;179448606;179448605 |
| N2A | 19200 | 57823;57824;57825 | chr2:178583880;178583879;178583878 | chr2:179448607;179448606;179448605 |
| N2B | 12703 | 38332;38333;38334 | chr2:178583880;178583879;178583878 | chr2:179448607;179448606;179448605 |
| Novex-1 | 12828 | 38707;38708;38709 | chr2:178583880;178583879;178583878 | chr2:179448607;179448606;179448605 |
| Novex-2 | 12895 | 38908;38909;38910 | chr2:178583880;178583879;178583878 | chr2:179448607;179448606;179448605 |
| 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/A | rs1171277318  |
-0.383 | 1.0 | N | 0.72 | 0.476 | 0.418344901717 | gnomAD-2.1.1 | 4.38E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.94E-05 | None | 0 | None | 0 | 0 | 0 |
| D/A | rs1171277318 |
-0.383 | 1.0 | N | 0.72 | 0.476 | 0.418344901717 | gnomAD-4.0.0 | 1.64911E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.83238E-05 | None | 0 | 0 | 0 | 0 | 0 |
| D/H | rs896934140 |
None | 1.0 | N | 0.639 | 0.442 | 0.415564226483 | gnomAD-4.0.0 | 1.38996E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.82215E-06 | 0 | 0 |
| D/N | None | None | 1.0 | N | 0.655 | 0.361 | 0.340510301474 | gnomAD-4.0.0 | 6.94979E-07 | None | None | None | None | N | None | 0 | 0 | None | 3.90656E-05 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/Y | None | None | 1.0 | N | 0.646 | 0.454 | 0.688919053348 | gnomAD-4.0.0 | 6.94981E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.11079E-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 | 0.4612 | ambiguous | 0.4295 | ambiguous | -0.347 | Destabilizing | 1.0 | D | 0.72 | prob.delet. | N | 0.469709717 | None | None | N |
| D/C | 0.8836 | likely_pathogenic | 0.8692 | pathogenic | 0.002 | Stabilizing | 1.0 | D | 0.64 | neutral | None | None | None | None | N |
| D/E | 0.5081 | ambiguous | 0.4543 | ambiguous | -0.314 | Destabilizing | 1.0 | D | 0.413 | neutral | N | 0.513534342 | None | None | N |
| D/F | 0.9006 | likely_pathogenic | 0.8856 | pathogenic | -0.235 | Destabilizing | 1.0 | D | 0.667 | neutral | None | None | None | None | N |
| D/G | 0.4831 | ambiguous | 0.4545 | ambiguous | -0.543 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | N | 0.480434139 | None | None | N |
| D/H | 0.6709 | likely_pathogenic | 0.6497 | pathogenic | -0.05 | Destabilizing | 1.0 | D | 0.639 | neutral | N | 0.492007935 | None | None | N |
| D/I | 0.8735 | likely_pathogenic | 0.8413 | pathogenic | 0.123 | Stabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | N |
| D/K | 0.8795 | likely_pathogenic | 0.8515 | pathogenic | 0.398 | Stabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| D/L | 0.8048 | likely_pathogenic | 0.7871 | pathogenic | 0.123 | Stabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| D/M | 0.9212 | likely_pathogenic | 0.8971 | pathogenic | 0.247 | Stabilizing | 1.0 | D | 0.641 | neutral | None | None | None | None | N |
| D/N | 0.2439 | likely_benign | 0.2279 | benign | -0.017 | Destabilizing | 1.0 | D | 0.655 | neutral | N | 0.515843928 | None | None | N |
| D/P | 0.992 | likely_pathogenic | 0.9918 | pathogenic | -0.012 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| D/Q | 0.7937 | likely_pathogenic | 0.7528 | pathogenic | 0.022 | Stabilizing | 1.0 | D | 0.708 | prob.delet. | None | None | None | None | N |
| D/R | 0.8335 | likely_pathogenic | 0.808 | pathogenic | 0.546 | Stabilizing | 1.0 | D | 0.704 | prob.neutral | None | None | None | None | N |
| D/S | 0.285 | likely_benign | 0.2731 | benign | -0.092 | Destabilizing | 1.0 | D | 0.69 | prob.neutral | None | None | None | None | N |
| D/T | 0.6629 | likely_pathogenic | 0.6096 | pathogenic | 0.068 | Stabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| D/V | 0.7203 | likely_pathogenic | 0.6757 | pathogenic | -0.012 | Destabilizing | 1.0 | D | 0.746 | deleterious | N | 0.485967547 | None | None | N |
| D/W | 0.9776 | likely_pathogenic | 0.9746 | pathogenic | -0.072 | Destabilizing | 1.0 | D | 0.649 | neutral | None | None | None | None | N |
| D/Y | 0.6376 | likely_pathogenic | 0.6052 | pathogenic | 0.013 | Stabilizing | 1.0 | D | 0.646 | neutral | N | 0.50533925 | 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.