Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15427 | 46504;46505;46506 | chr2:178620242;178620241;178620240 | chr2:179484969;179484968;179484967 |
| N2AB | 13786 | 41581;41582;41583 | chr2:178620242;178620241;178620240 | chr2:179484969;179484968;179484967 |
| N2A | 12859 | 38800;38801;38802 | chr2:178620242;178620241;178620240 | chr2:179484969;179484968;179484967 |
| N2B | 6362 | 19309;19310;19311 | chr2:178620242;178620241;178620240 | chr2:179484969;179484968;179484967 |
| Novex-1 | 6487 | 19684;19685;19686 | chr2:178620242;178620241;178620240 | chr2:179484969;179484968;179484967 |
| Novex-2 | 6554 | 19885;19886;19887 | chr2:178620242;178620241;178620240 | chr2:179484969;179484968;179484967 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/E | rs775511280  |
-0.744 | 1.0 | D | 0.642 | 0.633 | 0.77169317571 | gnomAD-2.1.1 | 5.3E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.08E-05 | None | 0 | 0 | 0 |
| G/E | rs775511280 |
-0.744 | 1.0 | D | 0.642 | 0.633 | 0.77169317571 | gnomAD-4.0.0 | 1.44321E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.80214E-05 | 0 |
| G/R | rs760535484 |
-0.462 | 1.0 | D | 0.677 | 0.637 | 0.814982974235 | gnomAD-2.1.1 | 1.83E-05 | None | None | None | None | N | None | 8.56E-05 | 0 | None | 0 | 0 | None | 1.22594E-04 | None | 0 | 0 | 0 |
| G/R | rs760535484 |
-0.462 | 1.0 | D | 0.677 | 0.637 | 0.814982974235 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07555E-04 | 0 |
| G/R | rs760535484 |
-0.462 | 1.0 | D | 0.677 | 0.637 | 0.814982974235 | gnomAD-4.0.0 | 9.7598E-06 | None | None | None | None | N | None | 2.77793E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.70801E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.6315 | likely_pathogenic | 0.7568 | pathogenic | -0.385 | Destabilizing | 1.0 | D | 0.575 | neutral | D | 0.68790462 | None | None | N |
| G/C | 0.7887 | likely_pathogenic | 0.8458 | pathogenic | -0.773 | Destabilizing | 1.0 | D | 0.716 | prob.delet. | None | None | None | None | N |
| G/D | 0.6998 | likely_pathogenic | 0.7382 | pathogenic | -0.696 | Destabilizing | 1.0 | D | 0.633 | neutral | None | None | None | None | N |
| G/E | 0.7957 | likely_pathogenic | 0.8606 | pathogenic | -0.837 | Destabilizing | 1.0 | D | 0.642 | neutral | D | 0.600622735 | None | None | N |
| G/F | 0.9594 | likely_pathogenic | 0.9791 | pathogenic | -0.979 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | N |
| G/H | 0.8514 | likely_pathogenic | 0.8967 | pathogenic | -0.71 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | None | None | None | None | N |
| G/I | 0.9263 | likely_pathogenic | 0.964 | pathogenic | -0.386 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | N |
| G/K | 0.9084 | likely_pathogenic | 0.9226 | pathogenic | -0.995 | Destabilizing | 1.0 | D | 0.645 | neutral | None | None | None | None | N |
| G/L | 0.9253 | likely_pathogenic | 0.9602 | pathogenic | -0.386 | Destabilizing | 1.0 | D | 0.684 | prob.neutral | None | None | None | None | N |
| G/M | 0.9342 | likely_pathogenic | 0.9672 | pathogenic | -0.42 | Destabilizing | 1.0 | D | 0.712 | prob.delet. | None | None | None | None | N |
| G/N | 0.5348 | ambiguous | 0.6649 | pathogenic | -0.556 | Destabilizing | 1.0 | D | 0.65 | neutral | None | None | None | None | N |
| G/P | 0.9965 | likely_pathogenic | 0.9978 | pathogenic | -0.349 | Destabilizing | 1.0 | D | 0.663 | neutral | None | None | None | None | N |
| G/Q | 0.7611 | likely_pathogenic | 0.8333 | pathogenic | -0.829 | Destabilizing | 1.0 | D | 0.692 | prob.neutral | None | None | None | None | N |
| G/R | 0.8203 | likely_pathogenic | 0.8534 | pathogenic | -0.537 | Destabilizing | 1.0 | D | 0.677 | prob.neutral | D | 0.641549947 | None | None | N |
| G/S | 0.2702 | likely_benign | 0.3894 | ambiguous | -0.715 | Destabilizing | 1.0 | D | 0.657 | neutral | None | None | None | None | N |
| G/T | 0.7368 | likely_pathogenic | 0.8379 | pathogenic | -0.787 | Destabilizing | 1.0 | D | 0.642 | neutral | None | None | None | None | N |
| G/V | 0.8968 | likely_pathogenic | 0.9486 | pathogenic | -0.349 | Destabilizing | 1.0 | D | 0.668 | neutral | D | 0.744363227 | None | None | N |
| G/W | 0.8878 | likely_pathogenic | 0.9288 | pathogenic | -1.186 | Destabilizing | 1.0 | D | 0.696 | prob.neutral | D | 0.744363227 | None | None | N |
| G/Y | 0.9032 | likely_pathogenic | 0.9437 | pathogenic | -0.826 | Destabilizing | 1.0 | D | 0.704 | prob.neutral | 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.