Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25216 | 75871;75872;75873 | chr2:178570486;178570485;178570484 | chr2:179435213;179435212;179435211 |
| N2AB | 23575 | 70948;70949;70950 | chr2:178570486;178570485;178570484 | chr2:179435213;179435212;179435211 |
| N2A | 22648 | 68167;68168;68169 | chr2:178570486;178570485;178570484 | chr2:179435213;179435212;179435211 |
| N2B | 16151 | 48676;48677;48678 | chr2:178570486;178570485;178570484 | chr2:179435213;179435212;179435211 |
| Novex-1 | 16276 | 49051;49052;49053 | chr2:178570486;178570485;178570484 | chr2:179435213;179435212;179435211 |
| Novex-2 | 16343 | 49252;49253;49254 | chr2:178570486;178570485;178570484 | chr2:179435213;179435212;179435211 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/E | None | None | 1.0 | N | 0.66 | 0.485 | 0.510758216515 | gnomAD-4.0.0 | 6.84405E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99591E-07 | 0 | 0 |
| G/V | rs748480491  |
0.074 | 1.0 | N | 0.661 | 0.478 | 0.642121336873 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.93E-06 | 0 |
| G/V | rs748480491 |
0.074 | 1.0 | N | 0.661 | 0.478 | 0.642121336873 | gnomAD-4.0.0 | 1.71101E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.24898E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.1495 | likely_benign | 0.1696 | benign | -0.218 | Destabilizing | 1.0 | D | 0.581 | neutral | N | 0.488926686 | None | None | N |
| G/C | 0.2234 | likely_benign | 0.2818 | benign | -0.825 | Destabilizing | 1.0 | D | 0.612 | neutral | None | None | None | None | N |
| G/D | 0.3213 | likely_benign | 0.3685 | ambiguous | -0.437 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | None | None | None | None | N |
| G/E | 0.3692 | ambiguous | 0.4249 | ambiguous | -0.603 | Destabilizing | 1.0 | D | 0.66 | neutral | N | 0.421893617 | None | None | N |
| G/F | 0.668 | likely_pathogenic | 0.7524 | pathogenic | -0.968 | Destabilizing | 1.0 | D | 0.581 | neutral | None | None | None | None | N |
| G/H | 0.4066 | ambiguous | 0.5045 | ambiguous | -0.481 | Destabilizing | 1.0 | D | 0.578 | neutral | None | None | None | None | N |
| G/I | 0.5109 | ambiguous | 0.5926 | pathogenic | -0.38 | Destabilizing | 1.0 | D | 0.599 | neutral | None | None | None | None | N |
| G/K | 0.5847 | likely_pathogenic | 0.6788 | pathogenic | -0.733 | Destabilizing | 1.0 | D | 0.66 | neutral | None | None | None | None | N |
| G/L | 0.4987 | ambiguous | 0.5665 | pathogenic | -0.38 | Destabilizing | 1.0 | D | 0.646 | neutral | None | None | None | None | N |
| G/M | 0.5136 | ambiguous | 0.583 | pathogenic | -0.413 | Destabilizing | 1.0 | D | 0.601 | neutral | None | None | None | None | N |
| G/N | 0.2329 | likely_benign | 0.2778 | benign | -0.374 | Destabilizing | 1.0 | D | 0.661 | neutral | None | None | None | None | N |
| G/P | 0.9297 | likely_pathogenic | 0.9543 | pathogenic | -0.294 | Destabilizing | 1.0 | D | 0.622 | neutral | None | None | None | None | N |
| G/Q | 0.3999 | ambiguous | 0.4608 | ambiguous | -0.65 | Destabilizing | 1.0 | D | 0.619 | neutral | None | None | None | None | N |
| G/R | 0.4271 | ambiguous | 0.5171 | ambiguous | -0.314 | Destabilizing | 1.0 | D | 0.617 | neutral | N | 0.48673453 | None | None | N |
| G/S | 0.1036 | likely_benign | 0.1132 | benign | -0.527 | Destabilizing | 1.0 | D | 0.644 | neutral | None | None | None | None | N |
| G/T | 0.1992 | likely_benign | 0.2292 | benign | -0.621 | Destabilizing | 1.0 | D | 0.657 | neutral | None | None | None | None | N |
| G/V | 0.3397 | likely_benign | 0.4012 | ambiguous | -0.294 | Destabilizing | 1.0 | D | 0.661 | neutral | N | 0.507205802 | None | None | N |
| G/W | 0.5098 | ambiguous | 0.6152 | pathogenic | -1.127 | Destabilizing | 1.0 | D | 0.597 | neutral | None | None | None | None | N |
| G/Y | 0.5026 | ambiguous | 0.6047 | pathogenic | -0.773 | Destabilizing | 1.0 | D | 0.576 | neutral | 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.