Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21797 | 65614;65615;65616 | chr2:178583793;178583792;178583791 | chr2:179448520;179448519;179448518 |
| N2AB | 20156 | 60691;60692;60693 | chr2:178583793;178583792;178583791 | chr2:179448520;179448519;179448518 |
| N2A | 19229 | 57910;57911;57912 | chr2:178583793;178583792;178583791 | chr2:179448520;179448519;179448518 |
| N2B | 12732 | 38419;38420;38421 | chr2:178583793;178583792;178583791 | chr2:179448520;179448519;179448518 |
| Novex-1 | 12857 | 38794;38795;38796 | chr2:178583793;178583792;178583791 | chr2:179448520;179448519;179448518 |
| Novex-2 | 12924 | 38995;38996;38997 | chr2:178583793;178583792;178583791 | chr2:179448520;179448519;179448518 |
| 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/F | rs886042894  |
None | 0.863 | N | 0.747 | 0.279 | 0.727300299738 | gnomAD-4.0.0 | 4.80084E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.40467E-06 | 0 | 1.66118E-05 |
| C/G | rs375830234 |
-1.928 | 0.002 | N | 0.627 | 0.273 | None | gnomAD-2.1.1 | 6.17E-05 | None | None | None | None | N | None | 6.66E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.2756E-04 | 0 |
| C/G | rs375830234 |
-1.928 | 0.002 | N | 0.627 | 0.273 | None | gnomAD-3.1.2 | 5.92E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.0295E-04 | 0 | 0 |
| C/G | rs375830234 |
-1.928 | 0.002 | N | 0.627 | 0.273 | None | gnomAD-4.0.0 | 5.15397E-05 | None | None | None | None | N | None | 2.67201E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 6.78957E-05 | 0 | 1.60488E-05 |
| C/Y | rs886042894 |
None | 0.975 | N | 0.727 | 0.32 | 0.637172401323 | gnomAD-4.0.0 | 2.0575E-06 | None | None | None | None | N | None | 0 | 4.50796E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.66118E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.4212 | ambiguous | 0.4086 | ambiguous | -1.34 | Destabilizing | 0.176 | N | 0.413 | neutral | None | None | None | None | N |
| C/D | 0.8932 | likely_pathogenic | 0.8667 | pathogenic | -0.943 | Destabilizing | 0.704 | D | 0.72 | prob.delet. | None | None | None | None | N |
| C/E | 0.802 | likely_pathogenic | 0.7796 | pathogenic | -0.712 | Destabilizing | 0.704 | D | 0.72 | prob.delet. | None | None | None | None | N |
| C/F | 0.2636 | likely_benign | 0.2044 | benign | -0.801 | Destabilizing | 0.863 | D | 0.747 | deleterious | N | 0.428032943 | None | None | N |
| C/G | 0.2986 | likely_benign | 0.2698 | benign | -1.687 | Destabilizing | 0.002 | N | 0.627 | neutral | N | 0.474728025 | None | None | N |
| C/H | 0.4677 | ambiguous | 0.3785 | ambiguous | -1.906 | Destabilizing | 0.981 | D | 0.695 | prob.neutral | None | None | None | None | N |
| C/I | 0.6233 | likely_pathogenic | 0.5676 | pathogenic | -0.402 | Destabilizing | 0.543 | D | 0.681 | prob.neutral | None | None | None | None | N |
| C/K | 0.5586 | ambiguous | 0.4958 | ambiguous | -0.536 | Destabilizing | 0.543 | D | 0.684 | prob.neutral | None | None | None | None | N |
| C/L | 0.3857 | ambiguous | 0.3279 | benign | -0.402 | Destabilizing | 0.003 | N | 0.443 | neutral | None | None | None | None | N |
| C/M | 0.5476 | ambiguous | 0.5038 | ambiguous | 0.259 | Stabilizing | 0.893 | D | 0.715 | prob.delet. | None | None | None | None | N |
| C/N | 0.6361 | likely_pathogenic | 0.5848 | pathogenic | -1.109 | Destabilizing | 0.704 | D | 0.719 | prob.delet. | None | None | None | None | N |
| C/P | 0.9941 | likely_pathogenic | 0.9934 | pathogenic | -0.693 | Destabilizing | 0.936 | D | 0.765 | deleterious | None | None | None | None | N |
| C/Q | 0.3789 | ambiguous | 0.3398 | benign | -0.632 | Destabilizing | 0.893 | D | 0.752 | deleterious | None | None | None | None | N |
| C/R | 0.2148 | likely_benign | 0.1797 | benign | -1.068 | Destabilizing | 0.006 | N | 0.639 | neutral | N | 0.353975114 | None | None | N |
| C/S | 0.3819 | ambiguous | 0.3372 | benign | -1.393 | Destabilizing | 0.27 | N | 0.623 | neutral | N | 0.444634404 | None | None | N |
| C/T | 0.5825 | likely_pathogenic | 0.547 | ambiguous | -0.977 | Destabilizing | 0.013 | N | 0.428 | neutral | None | None | None | None | N |
| C/V | 0.479 | ambiguous | 0.4457 | ambiguous | -0.693 | Destabilizing | 0.329 | N | 0.621 | neutral | None | None | None | None | N |
| C/W | 0.6055 | likely_pathogenic | 0.4947 | ambiguous | -1.179 | Destabilizing | 0.993 | D | 0.682 | prob.neutral | N | 0.466223185 | None | None | N |
| C/Y | 0.3236 | likely_benign | 0.2397 | benign | -0.938 | Destabilizing | 0.975 | D | 0.727 | prob.delet. | N | 0.460817365 | 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.