Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16248 | 48967;48968;48969 | chr2:178614865;178614864;178614863 | chr2:179479592;179479591;179479590 |
| N2AB | 14607 | 44044;44045;44046 | chr2:178614865;178614864;178614863 | chr2:179479592;179479591;179479590 |
| N2A | 13680 | 41263;41264;41265 | chr2:178614865;178614864;178614863 | chr2:179479592;179479591;179479590 |
| N2B | 7183 | 21772;21773;21774 | chr2:178614865;178614864;178614863 | chr2:179479592;179479591;179479590 |
| Novex-1 | 7308 | 22147;22148;22149 | chr2:178614865;178614864;178614863 | chr2:179479592;179479591;179479590 |
| Novex-2 | 7375 | 22348;22349;22350 | chr2:178614865;178614864;178614863 | chr2:179479592;179479591;179479590 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/K | rs890836589  |
0.182 | 0.89 | N | 0.451 | 0.184 | 0.159798565429 | gnomAD-2.1.1 | 5.32E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.27E-05 | 0 |
| Q/K | rs890836589 |
0.182 | 0.89 | N | 0.451 | 0.184 | 0.159798565429 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| Q/K | rs890836589 |
0.182 | 0.89 | N | 0.451 | 0.184 | 0.159798565429 | gnomAD-4.0.0 | 1.33488E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.72726E-05 | 0 | 1.63951E-05 |
| Q/R | rs2057018597 |
None | 0.89 | N | 0.583 | 0.097 | 0.163833314356 | gnomAD-4.0.0 | 1.70085E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.04951E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.2574 | likely_benign | 0.2692 | benign | -0.748 | Destabilizing | 0.685 | D | 0.533 | neutral | None | None | None | None | N |
| Q/C | 0.6301 | likely_pathogenic | 0.6646 | pathogenic | -0.032 | Destabilizing | 0.998 | D | 0.789 | deleterious | None | None | None | None | N |
| Q/D | 0.9036 | likely_pathogenic | 0.9161 | pathogenic | -0.316 | Destabilizing | 0.97 | D | 0.519 | neutral | None | None | None | None | N |
| Q/E | 0.1234 | likely_benign | 0.1418 | benign | -0.162 | Destabilizing | 0.91 | D | 0.394 | neutral | N | 0.474613149 | None | None | N |
| Q/F | 0.8488 | likely_pathogenic | 0.8443 | pathogenic | -0.331 | Destabilizing | 0.949 | D | 0.762 | deleterious | None | None | None | None | N |
| Q/G | 0.6726 | likely_pathogenic | 0.7015 | pathogenic | -1.135 | Destabilizing | 0.97 | D | 0.627 | neutral | None | None | None | None | N |
| Q/H | 0.5784 | likely_pathogenic | 0.6012 | pathogenic | -0.641 | Destabilizing | 0.989 | D | 0.614 | neutral | N | 0.500137535 | None | None | N |
| Q/I | 0.4038 | ambiguous | 0.4083 | ambiguous | 0.264 | Stabilizing | 0.725 | D | 0.66 | prob.neutral | None | None | None | None | N |
| Q/K | 0.1382 | likely_benign | 0.1364 | benign | -0.123 | Destabilizing | 0.89 | D | 0.451 | neutral | N | 0.46424479 | None | None | N |
| Q/L | 0.1102 | likely_benign | 0.1037 | benign | 0.264 | Stabilizing | 0.005 | N | 0.395 | neutral | N | 0.418482694 | None | None | N |
| Q/M | 0.2608 | likely_benign | 0.2687 | benign | 0.536 | Stabilizing | 0.949 | D | 0.582 | neutral | None | None | None | None | N |
| Q/N | 0.6896 | likely_pathogenic | 0.7154 | pathogenic | -0.802 | Destabilizing | 0.991 | D | 0.524 | neutral | None | None | None | None | N |
| Q/P | 0.226 | likely_benign | 0.2038 | benign | -0.043 | Destabilizing | 0.989 | D | 0.665 | prob.neutral | N | 0.502123263 | None | None | N |
| Q/R | 0.1671 | likely_benign | 0.1616 | benign | -0.071 | Destabilizing | 0.89 | D | 0.583 | neutral | N | 0.487390338 | None | None | N |
| Q/S | 0.5322 | ambiguous | 0.5673 | pathogenic | -1.023 | Destabilizing | 0.915 | D | 0.381 | neutral | None | None | None | None | N |
| Q/T | 0.3622 | ambiguous | 0.3749 | ambiguous | -0.659 | Destabilizing | 0.915 | D | 0.633 | neutral | None | None | None | None | N |
| Q/V | 0.252 | likely_benign | 0.2612 | benign | -0.043 | Destabilizing | 0.725 | D | 0.595 | neutral | None | None | None | None | N |
| Q/W | 0.8855 | likely_pathogenic | 0.8724 | pathogenic | -0.182 | Destabilizing | 0.998 | D | 0.799 | deleterious | None | None | None | None | N |
| Q/Y | 0.8058 | likely_pathogenic | 0.8109 | pathogenic | 0.071 | Stabilizing | 0.991 | D | 0.692 | prob.delet. | 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.