Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30041 | 90346;90347;90348 | chr2:178552779;178552778;178552777 | chr2:179417506;179417505;179417504 |
| N2AB | 28400 | 85423;85424;85425 | chr2:178552779;178552778;178552777 | chr2:179417506;179417505;179417504 |
| N2A | 27473 | 82642;82643;82644 | chr2:178552779;178552778;178552777 | chr2:179417506;179417505;179417504 |
| N2B | 20976 | 63151;63152;63153 | chr2:178552779;178552778;178552777 | chr2:179417506;179417505;179417504 |
| Novex-1 | 21101 | 63526;63527;63528 | chr2:178552779;178552778;178552777 | chr2:179417506;179417505;179417504 |
| Novex-2 | 21168 | 63727;63728;63729 | chr2:178552779;178552778;178552777 | chr2:179417506;179417505;179417504 |
| 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/G | None | None | 1.0 | N | 0.697 | 0.553 | 0.32714864917 | gnomAD-4.0.0 | 8.89428E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.52003E-05 | None | 0 | 0 | 9.89381E-06 | 0 | 1.65645E-05 |
| D/N | rs1272355523  |
0.161 | 1.0 | N | 0.636 | 0.362 | 0.299770980665 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| D/N | rs1272355523 |
0.161 | 1.0 | N | 0.636 | 0.362 | 0.299770980665 | gnomAD-4.0.0 | 1.36836E-06 | None | None | None | None | N | None | 0 | 2.23614E-05 | None | 0 | 2.52054E-05 | None | 0 | 0 | 0 | 0 | 0 |
| D/Y | rs1272355523 |
0.077 | 1.0 | N | 0.619 | 0.481 | 0.711839974248 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| D/Y | rs1272355523 |
0.077 | 1.0 | N | 0.619 | 0.481 | 0.711839974248 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07211E-04 | 0 |
| D/Y | rs1272355523 |
0.077 | 1.0 | N | 0.619 | 0.481 | 0.711839974248 | gnomAD-4.0.0 | 3.71795E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.58733E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.4564 | ambiguous | 0.4184 | ambiguous | -0.482 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | N | 0.471684726 | None | None | N |
| D/C | 0.8972 | likely_pathogenic | 0.8827 | pathogenic | -0.1 | Destabilizing | 1.0 | D | 0.627 | neutral | None | None | None | None | N |
| D/E | 0.3516 | ambiguous | 0.3433 | ambiguous | -0.435 | Destabilizing | 1.0 | D | 0.397 | neutral | N | 0.475285385 | None | None | N |
| D/F | 0.8557 | likely_pathogenic | 0.834 | pathogenic | -0.242 | Destabilizing | 1.0 | D | 0.643 | neutral | None | None | None | None | N |
| D/G | 0.404 | ambiguous | 0.3708 | ambiguous | -0.747 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | N | 0.477471624 | None | None | N |
| D/H | 0.6566 | likely_pathogenic | 0.6281 | pathogenic | -0.33 | Destabilizing | 1.0 | D | 0.607 | neutral | N | 0.512580952 | None | None | N |
| D/I | 0.7335 | likely_pathogenic | 0.6939 | pathogenic | 0.188 | Stabilizing | 1.0 | D | 0.678 | prob.neutral | None | None | None | None | N |
| D/K | 0.8043 | likely_pathogenic | 0.786 | pathogenic | -0.02 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| D/L | 0.7671 | likely_pathogenic | 0.7327 | pathogenic | 0.188 | Stabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | N |
| D/M | 0.8846 | likely_pathogenic | 0.8636 | pathogenic | 0.467 | Stabilizing | 1.0 | D | 0.624 | neutral | None | None | None | None | N |
| D/N | 0.2091 | likely_benign | 0.2002 | benign | -0.404 | Destabilizing | 1.0 | D | 0.636 | neutral | N | 0.498874321 | None | None | N |
| D/P | 0.9865 | likely_pathogenic | 0.9836 | pathogenic | -0.012 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | N |
| D/Q | 0.7098 | likely_pathogenic | 0.6825 | pathogenic | -0.32 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | None | None | None | None | N |
| D/R | 0.8233 | likely_pathogenic | 0.802 | pathogenic | 0.151 | Stabilizing | 1.0 | D | 0.665 | neutral | None | None | None | None | N |
| D/S | 0.3356 | likely_benign | 0.3132 | benign | -0.546 | Destabilizing | 1.0 | D | 0.66 | neutral | None | None | None | None | N |
| D/T | 0.5704 | likely_pathogenic | 0.5254 | ambiguous | -0.334 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| D/V | 0.5279 | ambiguous | 0.4864 | ambiguous | -0.012 | Destabilizing | 1.0 | D | 0.716 | prob.delet. | N | 0.499957199 | None | None | N |
| D/W | 0.9714 | likely_pathogenic | 0.9678 | pathogenic | -0.058 | Destabilizing | 1.0 | D | 0.63 | neutral | None | None | None | None | N |
| D/Y | 0.4578 | ambiguous | 0.4182 | ambiguous | -0.006 | Destabilizing | 1.0 | D | 0.619 | neutral | N | 0.494476697 | 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.