Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30649 | 92170;92171;92172 | chr2:178549777;178549776;178549775 | chr2:179414504;179414503;179414502 |
| N2AB | 29008 | 87247;87248;87249 | chr2:178549777;178549776;178549775 | chr2:179414504;179414503;179414502 |
| N2A | 28081 | 84466;84467;84468 | chr2:178549777;178549776;178549775 | chr2:179414504;179414503;179414502 |
| N2B | 21584 | 64975;64976;64977 | chr2:178549777;178549776;178549775 | chr2:179414504;179414503;179414502 |
| Novex-1 | 21709 | 65350;65351;65352 | chr2:178549777;178549776;178549775 | chr2:179414504;179414503;179414502 |
| Novex-2 | 21776 | 65551;65552;65553 | chr2:178549777;178549776;178549775 | chr2:179414504;179414503;179414502 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/G | rs764207273  |
None | 1.0 | N | 0.718 | 0.479 | 0.632527967172 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| C/G | rs764207273 |
None | 1.0 | N | 0.718 | 0.479 | 0.632527967172 | gnomAD-4.0.0 | 6.57108E-06 | None | None | None | None | I | None | 0 | 6.54879E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| C/R | rs764207273 |
0.751 | 1.0 | N | 0.769 | 0.533 | 0.752590173691 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| C/R | rs764207273 |
0.751 | 1.0 | N | 0.769 | 0.533 | 0.752590173691 | gnomAD-4.0.0 | 1.36923E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.80008E-06 | 0 | 0 |
| C/Y | rs1349466376 |
None | 1.0 | N | 0.761 | 0.474 | 0.627175478451 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| C/Y | rs1349466376 |
None | 1.0 | N | 0.761 | 0.474 | 0.627175478451 | gnomAD-4.0.0 | 2.02988E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.40982E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.6154 | likely_pathogenic | 0.63 | pathogenic | -0.466 | Destabilizing | 0.998 | D | 0.459 | neutral | None | None | None | None | I |
| C/D | 0.7837 | likely_pathogenic | 0.8315 | pathogenic | 0.415 | Stabilizing | 1.0 | D | 0.75 | deleterious | None | None | None | None | I |
| C/E | 0.9186 | likely_pathogenic | 0.9316 | pathogenic | 0.359 | Stabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | I |
| C/F | 0.3509 | ambiguous | 0.3789 | ambiguous | -0.646 | Destabilizing | 1.0 | D | 0.758 | deleterious | N | 0.411097834 | None | None | I |
| C/G | 0.2287 | likely_benign | 0.249 | benign | -0.541 | Destabilizing | 1.0 | D | 0.718 | prob.delet. | N | 0.218188463 | None | None | I |
| C/H | 0.743 | likely_pathogenic | 0.7816 | pathogenic | -0.462 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | I |
| C/I | 0.8964 | likely_pathogenic | 0.8926 | pathogenic | -0.36 | Destabilizing | 1.0 | D | 0.673 | neutral | None | None | None | None | I |
| C/K | 0.9573 | likely_pathogenic | 0.9597 | pathogenic | 0.227 | Stabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | I |
| C/L | 0.7411 | likely_pathogenic | 0.7137 | pathogenic | -0.36 | Destabilizing | 0.999 | D | 0.511 | neutral | None | None | None | None | I |
| C/M | 0.8105 | likely_pathogenic | 0.7965 | pathogenic | -0.062 | Destabilizing | 1.0 | D | 0.657 | neutral | None | None | None | None | I |
| C/N | 0.6061 | likely_pathogenic | 0.6264 | pathogenic | 0.543 | Stabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | I |
| C/P | 0.9915 | likely_pathogenic | 0.9911 | pathogenic | -0.375 | Destabilizing | 1.0 | D | 0.766 | deleterious | None | None | None | None | I |
| C/Q | 0.8644 | likely_pathogenic | 0.8742 | pathogenic | 0.364 | Stabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | I |
| C/R | 0.7929 | likely_pathogenic | 0.8236 | pathogenic | 0.529 | Stabilizing | 1.0 | D | 0.769 | deleterious | N | 0.385604743 | None | None | I |
| C/S | 0.3924 | ambiguous | 0.4375 | ambiguous | 0.131 | Stabilizing | 1.0 | D | 0.646 | neutral | N | 0.390431773 | None | None | I |
| C/T | 0.7916 | likely_pathogenic | 0.795 | pathogenic | 0.178 | Stabilizing | 1.0 | D | 0.651 | neutral | None | None | None | None | I |
| C/V | 0.8204 | likely_pathogenic | 0.8108 | pathogenic | -0.375 | Destabilizing | 0.999 | D | 0.604 | neutral | None | None | None | None | I |
| C/W | 0.7295 | likely_pathogenic | 0.7934 | pathogenic | -0.625 | Destabilizing | 1.0 | D | 0.785 | deleterious | N | 0.464142885 | None | None | I |
| C/Y | 0.4833 | ambiguous | 0.5458 | ambiguous | -0.443 | Destabilizing | 1.0 | D | 0.761 | deleterious | N | 0.420082676 | 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.