Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29609 | 89050;89051;89052 | chr2:178554522;178554521;178554520 | chr2:179419249;179419248;179419247 |
| N2AB | 27968 | 84127;84128;84129 | chr2:178554522;178554521;178554520 | chr2:179419249;179419248;179419247 |
| N2A | 27041 | 81346;81347;81348 | chr2:178554522;178554521;178554520 | chr2:179419249;179419248;179419247 |
| N2B | 20544 | 61855;61856;61857 | chr2:178554522;178554521;178554520 | chr2:179419249;179419248;179419247 |
| Novex-1 | 20669 | 62230;62231;62232 | chr2:178554522;178554521;178554520 | chr2:179419249;179419248;179419247 |
| Novex-2 | 20736 | 62431;62432;62433 | chr2:178554522;178554521;178554520 | chr2:179419249;179419248;179419247 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/G | rs766450773  |
-2.323 | 1.0 | N | 0.755 | 0.41 | 0.42069145522 | gnomAD-4.0.0 | 6.84818E-06 | None | None | None | None | N | None | 0 | 2.248E-05 | None | 0 | 2.28334E-04 | None | 0 | 0 | 0 | 0 | 0 |
| R/Q | rs758876816 |
-1.109 | 1.0 | N | 0.795 | 0.321 | 0.270889551736 | gnomAD-2.1.1 | 2.42E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.63559E-04 | None | 0 | 8.94E-06 | 0 |
| R/Q | rs758876816 |
-1.109 | 1.0 | N | 0.795 | 0.321 | 0.270889551736 | gnomAD-4.0.0 | 1.09493E-05 | None | None | None | None | N | None | 0 | 0 | None | 3.82702E-05 | 2.52793E-05 | None | 0 | 0 | 3.59795E-06 | 1.04362E-04 | 1.65744E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.5809 | likely_pathogenic | 0.5839 | pathogenic | -1.44 | Destabilizing | 0.999 | D | 0.631 | neutral | None | None | None | None | N |
| R/C | 0.1554 | likely_benign | 0.1572 | benign | -1.498 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| R/D | 0.9168 | likely_pathogenic | 0.9243 | pathogenic | -0.65 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| R/E | 0.6563 | likely_pathogenic | 0.6792 | pathogenic | -0.454 | Destabilizing | 0.999 | D | 0.683 | prob.neutral | None | None | None | None | N |
| R/F | 0.6755 | likely_pathogenic | 0.6834 | pathogenic | -0.772 | Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| R/G | 0.4845 | ambiguous | 0.4934 | ambiguous | -1.809 | Destabilizing | 1.0 | D | 0.755 | deleterious | N | 0.481385645 | None | None | N |
| R/H | 0.1459 | likely_benign | 0.1482 | benign | -1.781 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| R/I | 0.518 | ambiguous | 0.5268 | ambiguous | -0.398 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| R/K | 0.153 | likely_benign | 0.1503 | benign | -1.306 | Destabilizing | 0.998 | D | 0.611 | neutral | None | None | None | None | N |
| R/L | 0.3893 | ambiguous | 0.4013 | ambiguous | -0.398 | Destabilizing | 1.0 | D | 0.755 | deleterious | N | 0.504032211 | None | None | N |
| R/M | 0.3267 | likely_benign | 0.3202 | benign | -0.869 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | N |
| R/N | 0.7735 | likely_pathogenic | 0.7784 | pathogenic | -1.104 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | N |
| R/P | 0.9898 | likely_pathogenic | 0.9912 | pathogenic | -0.73 | Destabilizing | 1.0 | D | 0.791 | deleterious | N | 0.504351745 | None | None | N |
| R/Q | 0.1321 | likely_benign | 0.1348 | benign | -1.017 | Destabilizing | 1.0 | D | 0.795 | deleterious | N | 0.517593367 | None | None | N |
| R/S | 0.5492 | ambiguous | 0.5599 | ambiguous | -1.925 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| R/T | 0.3367 | likely_benign | 0.3371 | benign | -1.516 | Destabilizing | 1.0 | D | 0.744 | deleterious | None | None | None | None | N |
| R/V | 0.5472 | ambiguous | 0.5578 | ambiguous | -0.73 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| R/W | 0.2771 | likely_benign | 0.2959 | benign | -0.332 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| R/Y | 0.5188 | ambiguous | 0.5289 | ambiguous | -0.116 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | 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.