Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18506 | 55741;55742;55743 | chr2:178601481;178601480;178601479 | chr2:179466208;179466207;179466206 |
| N2AB | 16865 | 50818;50819;50820 | chr2:178601481;178601480;178601479 | chr2:179466208;179466207;179466206 |
| N2A | 15938 | 48037;48038;48039 | chr2:178601481;178601480;178601479 | chr2:179466208;179466207;179466206 |
| N2B | 9441 | 28546;28547;28548 | chr2:178601481;178601480;178601479 | chr2:179466208;179466207;179466206 |
| Novex-1 | 9566 | 28921;28922;28923 | chr2:178601481;178601480;178601479 | chr2:179466208;179466207;179466206 |
| Novex-2 | 9633 | 29122;29123;29124 | chr2:178601481;178601480;178601479 | chr2:179466208;179466207;179466206 |
| 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/N | rs757839460  |
-0.179 | 1.0 | N | 0.669 | 0.42 | 0.494165489436 | gnomAD-2.1.1 | 3.22E-05 | None | None | None | None | I | None | 0 | 8.7E-05 | None | 0 | 0 | None | 0 | None | 4.64E-05 | 3.56E-05 | 0 |
| D/N | rs757839460 |
-0.179 | 1.0 | N | 0.669 | 0.42 | 0.494165489436 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| D/N | rs757839460 |
-0.179 | 1.0 | N | 0.669 | 0.42 | 0.494165489436 | gnomAD-4.0.0 | 1.798E-05 | None | None | None | None | I | None | 4.00769E-05 | 6.67356E-05 | None | 0 | 0 | None | 1.5626E-05 | 0 | 1.78066E-05 | 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 | 0.9458 | likely_pathogenic | 0.9629 | pathogenic | -0.067 | Destabilizing | 1.0 | D | 0.71 | prob.delet. | N | 0.485322437 | None | None | I |
| D/C | 0.9824 | likely_pathogenic | 0.9883 | pathogenic | 0.207 | Stabilizing | 1.0 | D | 0.647 | neutral | None | None | None | None | I |
| D/E | 0.8801 | likely_pathogenic | 0.9094 | pathogenic | -0.701 | Destabilizing | 1.0 | D | 0.435 | neutral | N | 0.479864708 | None | None | I |
| D/F | 0.9914 | likely_pathogenic | 0.9936 | pathogenic | -0.455 | Destabilizing | 1.0 | D | 0.648 | neutral | None | None | None | None | I |
| D/G | 0.9451 | likely_pathogenic | 0.9595 | pathogenic | -0.317 | Destabilizing | 1.0 | D | 0.671 | neutral | N | 0.498364264 | None | None | I |
| D/H | 0.9558 | likely_pathogenic | 0.9708 | pathogenic | -0.874 | Destabilizing | 1.0 | D | 0.638 | neutral | N | 0.495628786 | None | None | I |
| D/I | 0.9813 | likely_pathogenic | 0.9875 | pathogenic | 0.549 | Stabilizing | 1.0 | D | 0.671 | neutral | None | None | None | None | I |
| D/K | 0.9861 | likely_pathogenic | 0.9914 | pathogenic | 0.063 | Stabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | I |
| D/L | 0.9802 | likely_pathogenic | 0.9838 | pathogenic | 0.549 | Stabilizing | 1.0 | D | 0.686 | prob.neutral | None | None | None | None | I |
| D/M | 0.9926 | likely_pathogenic | 0.9946 | pathogenic | 0.977 | Stabilizing | 1.0 | D | 0.635 | neutral | None | None | None | None | I |
| D/N | 0.3752 | ambiguous | 0.4443 | ambiguous | -0.154 | Destabilizing | 1.0 | D | 0.669 | neutral | N | 0.506072439 | None | None | I |
| D/P | 0.9908 | likely_pathogenic | 0.9934 | pathogenic | 0.369 | Stabilizing | 1.0 | D | 0.72 | prob.delet. | None | None | None | None | I |
| D/Q | 0.9806 | likely_pathogenic | 0.9884 | pathogenic | -0.093 | Destabilizing | 1.0 | D | 0.726 | prob.delet. | None | None | None | None | I |
| D/R | 0.986 | likely_pathogenic | 0.9905 | pathogenic | -0.089 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | I |
| D/S | 0.7898 | likely_pathogenic | 0.8428 | pathogenic | -0.291 | Destabilizing | 1.0 | D | 0.686 | prob.neutral | None | None | None | None | I |
| D/T | 0.9064 | likely_pathogenic | 0.9437 | pathogenic | -0.095 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | I |
| D/V | 0.959 | likely_pathogenic | 0.973 | pathogenic | 0.369 | Stabilizing | 1.0 | D | 0.692 | prob.neutral | N | 0.497096816 | None | None | I |
| D/W | 0.998 | likely_pathogenic | 0.9985 | pathogenic | -0.553 | Destabilizing | 1.0 | D | 0.647 | neutral | None | None | None | None | I |
| D/Y | 0.936 | likely_pathogenic | 0.9536 | pathogenic | -0.274 | Destabilizing | 1.0 | D | 0.626 | neutral | D | 0.532597764 | 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.