Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7730 | 23413;23414;23415 | chr2:178720574;178720573;178720572 | chr2:179585301;179585300;179585299 |
| N2AB | 7413 | 22462;22463;22464 | chr2:178720574;178720573;178720572 | chr2:179585301;179585300;179585299 |
| N2A | 6486 | 19681;19682;19683 | chr2:178720574;178720573;178720572 | chr2:179585301;179585300;179585299 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | rs774547593  |
-0.132 | 0.998 | N | 0.657 | 0.46 | 0.439445477881 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | I | None | 0 | 1.16218E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/A | rs774547593 |
-0.132 | 0.998 | N | 0.657 | 0.46 | 0.439445477881 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/A | rs774547593 |
-0.132 | 0.998 | N | 0.657 | 0.46 | 0.439445477881 | gnomAD-4.0.0 | 6.19891E-06 | None | None | None | None | I | None | 0 | 8.33917E-05 | None | 0 | 6.69105E-05 | None | 0 | 0 | 1.69555E-06 | 0 | 0 |
| P/S | rs774547593 |
-0.053 | 1.0 | N | 0.676 | 0.453 | 0.437634105008 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| P/S | rs774547593 |
-0.053 | 1.0 | N | 0.676 | 0.453 | 0.437634105008 | gnomAD-4.0.0 | 6.8441E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15993E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.2878 | likely_benign | 0.3738 | ambiguous | -0.571 | Destabilizing | 0.998 | D | 0.657 | neutral | N | 0.491440001 | None | None | I |
| P/C | 0.9306 | likely_pathogenic | 0.9527 | pathogenic | -0.462 | Destabilizing | 1.0 | D | 0.666 | neutral | None | None | None | None | I |
| P/D | 0.8202 | likely_pathogenic | 0.8637 | pathogenic | -0.685 | Destabilizing | 0.998 | D | 0.655 | neutral | None | None | None | None | I |
| P/E | 0.7487 | likely_pathogenic | 0.8161 | pathogenic | -0.771 | Destabilizing | 0.999 | D | 0.666 | neutral | None | None | None | None | I |
| P/F | 0.9265 | likely_pathogenic | 0.9581 | pathogenic | -0.729 | Destabilizing | 1.0 | D | 0.625 | neutral | None | None | None | None | I |
| P/G | 0.7553 | likely_pathogenic | 0.8031 | pathogenic | -0.73 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | I |
| P/H | 0.6786 | likely_pathogenic | 0.7725 | pathogenic | -0.346 | Destabilizing | 1.0 | D | 0.638 | neutral | None | None | None | None | I |
| P/I | 0.7842 | likely_pathogenic | 0.857 | pathogenic | -0.278 | Destabilizing | 1.0 | D | 0.661 | neutral | None | None | None | None | I |
| P/K | 0.8145 | likely_pathogenic | 0.8802 | pathogenic | -0.569 | Destabilizing | 1.0 | D | 0.657 | neutral | None | None | None | None | I |
| P/L | 0.4833 | ambiguous | 0.6045 | pathogenic | -0.278 | Destabilizing | 1.0 | D | 0.684 | prob.neutral | N | 0.482249743 | None | None | I |
| P/M | 0.8057 | likely_pathogenic | 0.8627 | pathogenic | -0.414 | Destabilizing | 1.0 | D | 0.642 | neutral | None | None | None | None | I |
| P/N | 0.7564 | likely_pathogenic | 0.8148 | pathogenic | -0.232 | Destabilizing | 1.0 | D | 0.679 | prob.neutral | None | None | None | None | I |
| P/Q | 0.6179 | likely_pathogenic | 0.718 | pathogenic | -0.461 | Destabilizing | 1.0 | D | 0.646 | neutral | N | 0.482841946 | None | None | I |
| P/R | 0.6444 | likely_pathogenic | 0.7541 | pathogenic | -0.075 | Destabilizing | 1.0 | D | 0.669 | neutral | N | 0.485376842 | None | None | I |
| P/S | 0.4835 | ambiguous | 0.5844 | pathogenic | -0.519 | Destabilizing | 1.0 | D | 0.676 | prob.neutral | N | 0.488237224 | None | None | I |
| P/T | 0.4396 | ambiguous | 0.5376 | ambiguous | -0.51 | Destabilizing | 1.0 | D | 0.671 | neutral | D | 0.525784068 | None | None | I |
| P/V | 0.6189 | likely_pathogenic | 0.7228 | pathogenic | -0.343 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | None | None | None | None | I |
| P/W | 0.9751 | likely_pathogenic | 0.985 | pathogenic | -0.85 | Destabilizing | 1.0 | D | 0.677 | prob.neutral | None | None | None | None | I |
| P/Y | 0.9016 | likely_pathogenic | 0.9413 | pathogenic | -0.548 | Destabilizing | 1.0 | D | 0.635 | neutral | 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.