Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2499 | 7720;7721;7722 | chr2:178773561;178773560;178773559 | chr2:179638288;179638287;179638286 |
| N2AB | 2499 | 7720;7721;7722 | chr2:178773561;178773560;178773559 | chr2:179638288;179638287;179638286 |
| N2A | 2499 | 7720;7721;7722 | chr2:178773561;178773560;178773559 | chr2:179638288;179638287;179638286 |
| N2B | 2453 | 7582;7583;7584 | chr2:178773561;178773560;178773559 | chr2:179638288;179638287;179638286 |
| Novex-1 | 2453 | 7582;7583;7584 | chr2:178773561;178773560;178773559 | chr2:179638288;179638287;179638286 |
| Novex-2 | 2453 | 7582;7583;7584 | chr2:178773561;178773560;178773559 | chr2:179638288;179638287;179638286 |
| Novex-3 | 2499 | 7720;7721;7722 | chr2:178773561;178773560;178773559 | chr2:179638288;179638287;179638286 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/N | rs769774709  |
-0.571 | 1.0 | D | 0.723 | 0.292 | 0.21279746466 | gnomAD-2.1.1 | 1.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 9.8E-05 | None | 0 | 0 | 0 |
| K/N | rs769774709 |
-0.571 | 1.0 | D | 0.723 | 0.292 | 0.21279746466 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07039E-04 | 0 |
| K/N | rs769774709 |
-0.571 | 1.0 | D | 0.723 | 0.292 | 0.21279746466 | gnomAD-4.0.0 | 6.81563E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.09786E-04 | 1.60041E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| K/A | 0.8635 | likely_pathogenic | 0.8728 | pathogenic | -0.537 | Destabilizing | 0.999 | D | 0.696 | prob.neutral | None | None | None | None | N |
| K/C | 0.9377 | likely_pathogenic | 0.9392 | pathogenic | -0.746 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| K/D | 0.9613 | likely_pathogenic | 0.9634 | pathogenic | -0.794 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| K/E | 0.7077 | likely_pathogenic | 0.7337 | pathogenic | -0.688 | Destabilizing | 0.999 | D | 0.572 | neutral | D | 0.542886272 | None | None | N |
| K/F | 0.9735 | likely_pathogenic | 0.9747 | pathogenic | -0.262 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| K/G | 0.9224 | likely_pathogenic | 0.9287 | pathogenic | -0.909 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| K/H | 0.6831 | likely_pathogenic | 0.6879 | pathogenic | -1.338 | Destabilizing | 1.0 | D | 0.732 | prob.delet. | None | None | None | None | N |
| K/I | 0.7588 | likely_pathogenic | 0.7767 | pathogenic | 0.428 | Stabilizing | 1.0 | D | 0.827 | deleterious | N | 0.498712494 | None | None | N |
| K/L | 0.8012 | likely_pathogenic | 0.8122 | pathogenic | 0.428 | Stabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| K/M | 0.6682 | likely_pathogenic | 0.6825 | pathogenic | 0.385 | Stabilizing | 1.0 | D | 0.724 | prob.delet. | None | None | None | None | N |
| K/N | 0.9018 | likely_pathogenic | 0.9093 | pathogenic | -0.801 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | D | 0.539787527 | None | None | N |
| K/P | 0.9858 | likely_pathogenic | 0.9874 | pathogenic | 0.136 | Stabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| K/Q | 0.4338 | ambiguous | 0.4541 | ambiguous | -0.916 | Destabilizing | 1.0 | D | 0.71 | prob.delet. | D | 0.576100244 | None | None | N |
| K/R | 0.1216 | likely_benign | 0.1229 | benign | -0.839 | Destabilizing | 0.999 | D | 0.509 | neutral | N | 0.504190425 | None | None | N |
| K/S | 0.8737 | likely_pathogenic | 0.8831 | pathogenic | -1.337 | Destabilizing | 0.999 | D | 0.633 | neutral | None | None | None | None | N |
| K/T | 0.5827 | likely_pathogenic | 0.6036 | pathogenic | -1.035 | Destabilizing | 1.0 | D | 0.78 | deleterious | D | 0.552807813 | None | None | N |
| K/V | 0.6888 | likely_pathogenic | 0.7025 | pathogenic | 0.136 | Stabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| K/W | 0.9558 | likely_pathogenic | 0.9581 | pathogenic | -0.195 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| K/Y | 0.9143 | likely_pathogenic | 0.9164 | pathogenic | 0.14 | Stabilizing | 1.0 | D | 0.785 | deleterious | 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.