Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29904 | 89935;89936;89937 | chr2:178553190;178553189;178553188 | chr2:179417917;179417916;179417915 |
| N2AB | 28263 | 85012;85013;85014 | chr2:178553190;178553189;178553188 | chr2:179417917;179417916;179417915 |
| N2A | 27336 | 82231;82232;82233 | chr2:178553190;178553189;178553188 | chr2:179417917;179417916;179417915 |
| N2B | 20839 | 62740;62741;62742 | chr2:178553190;178553189;178553188 | chr2:179417917;179417916;179417915 |
| Novex-1 | 20964 | 63115;63116;63117 | chr2:178553190;178553189;178553188 | chr2:179417917;179417916;179417915 |
| Novex-2 | 21031 | 63316;63317;63318 | chr2:178553190;178553189;178553188 | chr2:179417917;179417916;179417915 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/C | rs1222259013  |
None | 1.0 | D | 0.751 | 0.426 | 0.581344535356 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| R/C | rs1222259013 |
None | 1.0 | D | 0.751 | 0.426 | 0.581344535356 | gnomAD-4.0.0 | 3.71825E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.23809E-06 | 1.09791E-05 | 0 |
| R/H | None | -0.66 | 1.0 | N | 0.759 | 0.486 | None | gnomAD-2.1.1 | 6.78E-05 | None | None | None | None | N | None | 3.30688E-04 | 2.26257E-04 | None | 0 | 0 | None | 0 | None | 0 | 2.34E-05 | 0 |
| R/H | None | -0.66 | 1.0 | N | 0.759 | 0.486 | None | gnomAD-3.1.2 | 3.94E-05 | None | None | None | None | N | None | 1.20656E-04 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| R/H | None | -0.66 | 1.0 | N | 0.759 | 0.486 | None | gnomAD-4.0.0 | 2.10697E-05 | None | None | None | None | N | None | 1.60179E-04 | 2.33341E-04 | None | 0 | 0 | None | 0 | 0 | 5.93317E-06 | 1.09794E-05 | 0 |
| R/L | rs397517744 |
0.572 | 1.0 | N | 0.577 | 0.445 | 0.435699915968 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| R/L | rs397517744 |
0.572 | 1.0 | N | 0.577 | 0.445 | 0.435699915968 | gnomAD-4.0.0 | 1.36843E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79892E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.9673 | likely_pathogenic | 0.9589 | pathogenic | -0.1 | Destabilizing | 0.999 | D | 0.586 | neutral | None | None | None | None | N |
| R/C | 0.7661 | likely_pathogenic | 0.714 | pathogenic | -0.231 | Destabilizing | 1.0 | D | 0.751 | deleterious | D | 0.527668288 | None | None | N |
| R/D | 0.9945 | likely_pathogenic | 0.9926 | pathogenic | -0.111 | Destabilizing | 1.0 | D | 0.688 | prob.neutral | None | None | None | None | N |
| R/E | 0.9466 | likely_pathogenic | 0.9292 | pathogenic | -0.068 | Destabilizing | 0.999 | D | 0.622 | neutral | None | None | None | None | N |
| R/F | 0.9853 | likely_pathogenic | 0.9821 | pathogenic | -0.401 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | N |
| R/G | 0.9492 | likely_pathogenic | 0.9386 | pathogenic | -0.262 | Destabilizing | 1.0 | D | 0.577 | neutral | N | 0.497700749 | None | None | N |
| R/H | 0.6352 | likely_pathogenic | 0.579 | pathogenic | -0.68 | Destabilizing | 1.0 | D | 0.759 | deleterious | N | 0.495231987 | None | None | N |
| R/I | 0.9195 | likely_pathogenic | 0.8982 | pathogenic | 0.287 | Stabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | N |
| R/K | 0.4291 | ambiguous | 0.3795 | ambiguous | -0.14 | Destabilizing | 0.998 | D | 0.518 | neutral | None | None | None | None | N |
| R/L | 0.8954 | likely_pathogenic | 0.8673 | pathogenic | 0.287 | Stabilizing | 1.0 | D | 0.577 | neutral | N | 0.460323242 | None | None | N |
| R/M | 0.9518 | likely_pathogenic | 0.9343 | pathogenic | -0.014 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | N |
| R/N | 0.9887 | likely_pathogenic | 0.9841 | pathogenic | 0.101 | Stabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | N |
| R/P | 0.9737 | likely_pathogenic | 0.9701 | pathogenic | 0.177 | Stabilizing | 1.0 | D | 0.684 | prob.neutral | N | 0.45574134 | None | None | N |
| R/Q | 0.556 | ambiguous | 0.4863 | ambiguous | -0.041 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | None | N |
| R/S | 0.9849 | likely_pathogenic | 0.9807 | pathogenic | -0.269 | Destabilizing | 1.0 | D | 0.631 | neutral | N | 0.471745681 | None | None | N |
| R/T | 0.9694 | likely_pathogenic | 0.9594 | pathogenic | -0.106 | Destabilizing | 1.0 | D | 0.629 | neutral | None | None | None | None | N |
| R/V | 0.9414 | likely_pathogenic | 0.9258 | pathogenic | 0.177 | Stabilizing | 1.0 | D | 0.704 | prob.neutral | None | None | None | None | N |
| R/W | 0.7737 | likely_pathogenic | 0.7338 | pathogenic | -0.463 | Destabilizing | 1.0 | D | 0.766 | deleterious | None | None | None | None | N |
| R/Y | 0.9518 | likely_pathogenic | 0.9369 | pathogenic | -0.055 | Destabilizing | 1.0 | D | 0.713 | 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.