Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15130 | 45613;45614;45615 | chr2:178621330;178621329;178621328 | chr2:179486057;179486056;179486055 |
| N2AB | 13489 | 40690;40691;40692 | chr2:178621330;178621329;178621328 | chr2:179486057;179486056;179486055 |
| N2A | 12562 | 37909;37910;37911 | chr2:178621330;178621329;178621328 | chr2:179486057;179486056;179486055 |
| N2B | 6065 | 18418;18419;18420 | chr2:178621330;178621329;178621328 | chr2:179486057;179486056;179486055 |
| Novex-1 | 6190 | 18793;18794;18795 | chr2:178621330;178621329;178621328 | chr2:179486057;179486056;179486055 |
| Novex-2 | 6257 | 18994;18995;18996 | chr2:178621330;178621329;178621328 | chr2:179486057;179486056;179486055 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/K | rs772087689  |
0.815 | 0.999 | N | 0.657 | 0.4 | 0.472582640538 | gnomAD-2.1.1 | 2.03E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 2.33231E-04 | 0 | 0 |
| E/K | rs772087689 |
0.815 | 0.999 | N | 0.657 | 0.4 | 0.472582640538 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 9.44E-05 | 0 | 1.47E-05 | 0 | 0 |
| E/K | rs772087689 |
0.815 | 0.999 | N | 0.657 | 0.4 | 0.472582640538 | gnomAD-4.0.0 | 1.66972E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 1.41492E-04 | 0 | 9.59049E-06 | 0 | 0 |
| E/V | rs1473655528 |
0.408 | 1.0 | N | 0.653 | 0.499 | 0.500742145641 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 6.59631E-04 | None | 0 | None | 0 | 0 | 0 |
| E/V | rs1473655528 |
0.408 | 1.0 | N | 0.653 | 0.499 | 0.500742145641 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 1.9516E-04 | None | 0 | 0 | 0 | 0 | 0 |
| E/V | rs1473655528 |
0.408 | 1.0 | N | 0.653 | 0.499 | 0.500742145641 | gnomAD-4.0.0 | 6.58146E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 1.9516E-04 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.5111 | ambiguous | 0.4007 | ambiguous | -0.34 | Destabilizing | 0.999 | D | 0.654 | neutral | N | 0.502881326 | None | None | I |
| E/C | 0.9816 | likely_pathogenic | 0.9737 | pathogenic | -0.238 | Destabilizing | 1.0 | D | 0.696 | prob.neutral | None | None | None | None | I |
| E/D | 0.387 | ambiguous | 0.3688 | ambiguous | -0.452 | Destabilizing | 0.999 | D | 0.545 | neutral | N | 0.515492695 | None | None | I |
| E/F | 0.9692 | likely_pathogenic | 0.9529 | pathogenic | 0.005 | Stabilizing | 1.0 | D | 0.635 | neutral | None | None | None | None | I |
| E/G | 0.6919 | likely_pathogenic | 0.5793 | pathogenic | -0.563 | Destabilizing | 1.0 | D | 0.622 | neutral | D | 0.587372217 | None | None | I |
| E/H | 0.8804 | likely_pathogenic | 0.814 | pathogenic | 0.382 | Stabilizing | 1.0 | D | 0.68 | prob.neutral | None | None | None | None | I |
| E/I | 0.7838 | likely_pathogenic | 0.7206 | pathogenic | 0.224 | Stabilizing | 1.0 | D | 0.661 | neutral | None | None | None | None | I |
| E/K | 0.6623 | likely_pathogenic | 0.5056 | ambiguous | 0.354 | Stabilizing | 0.999 | D | 0.657 | neutral | N | 0.512415964 | None | None | I |
| E/L | 0.8333 | likely_pathogenic | 0.7733 | pathogenic | 0.224 | Stabilizing | 1.0 | D | 0.655 | neutral | None | None | None | None | I |
| E/M | 0.8358 | likely_pathogenic | 0.7687 | pathogenic | 0.154 | Stabilizing | 1.0 | D | 0.615 | neutral | None | None | None | None | I |
| E/N | 0.7109 | likely_pathogenic | 0.6053 | pathogenic | -0.235 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | I |
| E/P | 0.9664 | likely_pathogenic | 0.9378 | pathogenic | 0.057 | Stabilizing | 1.0 | D | 0.675 | prob.neutral | None | None | None | None | I |
| E/Q | 0.3838 | ambiguous | 0.2823 | benign | -0.158 | Destabilizing | 1.0 | D | 0.665 | neutral | N | 0.516250163 | None | None | I |
| E/R | 0.7732 | likely_pathogenic | 0.6542 | pathogenic | 0.675 | Stabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | I |
| E/S | 0.5918 | likely_pathogenic | 0.485 | ambiguous | -0.347 | Destabilizing | 0.999 | D | 0.689 | prob.neutral | None | None | None | None | I |
| E/T | 0.562 | ambiguous | 0.4625 | ambiguous | -0.151 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | I |
| E/V | 0.5318 | ambiguous | 0.4614 | ambiguous | 0.057 | Stabilizing | 1.0 | D | 0.653 | neutral | N | 0.485080508 | None | None | I |
| E/W | 0.9913 | likely_pathogenic | 0.9871 | pathogenic | 0.216 | Stabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | None | I |
| E/Y | 0.948 | likely_pathogenic | 0.9217 | pathogenic | 0.268 | Stabilizing | 1.0 | D | 0.631 | neutral | None | None | 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.