Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29754 | 89485;89486;89487 | chr2:178553745;178553744;178553743 | chr2:179418472;179418471;179418470 |
| N2AB | 28113 | 84562;84563;84564 | chr2:178553745;178553744;178553743 | chr2:179418472;179418471;179418470 |
| N2A | 27186 | 81781;81782;81783 | chr2:178553745;178553744;178553743 | chr2:179418472;179418471;179418470 |
| N2B | 20689 | 62290;62291;62292 | chr2:178553745;178553744;178553743 | chr2:179418472;179418471;179418470 |
| Novex-1 | 20814 | 62665;62666;62667 | chr2:178553745;178553744;178553743 | chr2:179418472;179418471;179418470 |
| Novex-2 | 20881 | 62866;62867;62868 | chr2:178553745;178553744;178553743 | chr2:179418472;179418471;179418470 |
| 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/D | rs769191835  |
-1.418 | 0.761 | N | 0.681 | 0.158 | None | gnomAD-2.1.1 | 1.44E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.15E-05 | 0 |
| G/D | rs769191835 |
-1.418 | 0.761 | N | 0.681 | 0.158 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/D | rs769191835 |
-1.418 | 0.761 | N | 0.681 | 0.158 | None | gnomAD-4.0.0 | 1.36477E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.56372E-05 | 0 | 1.44212E-05 | 0 | 6.41046E-05 |
| G/R | rs1208704177 |
None | 0.864 | N | 0.725 | 0.146 | 0.448300063881 | gnomAD-4.0.0 | 1.59529E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77716E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.0887 | likely_benign | 0.0898 | benign | -0.524 | Destabilizing | 0.006 | N | 0.48 | neutral | N | 0.418354667 | None | None | N |
| G/C | 0.124 | likely_benign | 0.1357 | benign | -0.93 | Destabilizing | 0.98 | D | 0.798 | deleterious | N | 0.497951601 | None | None | N |
| G/D | 0.4874 | ambiguous | 0.4829 | ambiguous | -1.792 | Destabilizing | 0.761 | D | 0.681 | prob.neutral | N | 0.485137019 | None | None | N |
| G/E | 0.3337 | likely_benign | 0.334 | benign | -1.659 | Destabilizing | 0.809 | D | 0.686 | prob.neutral | None | None | None | None | N |
| G/F | 0.5107 | ambiguous | 0.5328 | ambiguous | -0.521 | Destabilizing | 0.945 | D | 0.815 | deleterious | None | None | None | None | N |
| G/H | 0.4078 | ambiguous | 0.4182 | ambiguous | -1.655 | Destabilizing | 0.985 | D | 0.736 | prob.delet. | None | None | None | None | N |
| G/I | 0.1863 | likely_benign | 0.2039 | benign | 0.454 | Stabilizing | 0.894 | D | 0.821 | deleterious | None | None | None | None | N |
| G/K | 0.5118 | ambiguous | 0.5341 | ambiguous | -0.899 | Destabilizing | 0.809 | D | 0.685 | prob.neutral | None | None | None | None | N |
| G/L | 0.2862 | likely_benign | 0.2956 | benign | 0.454 | Stabilizing | 0.809 | D | 0.763 | deleterious | None | None | None | None | N |
| G/M | 0.3452 | ambiguous | 0.3787 | ambiguous | 0.089 | Stabilizing | 0.995 | D | 0.797 | deleterious | None | None | None | None | N |
| G/N | 0.3152 | likely_benign | 0.3345 | benign | -1.03 | Destabilizing | 0.017 | N | 0.411 | neutral | None | None | None | None | N |
| G/P | 0.9797 | likely_pathogenic | 0.9774 | pathogenic | 0.173 | Stabilizing | 0.945 | D | 0.731 | prob.delet. | None | None | None | None | N |
| G/Q | 0.3484 | ambiguous | 0.3511 | ambiguous | -0.912 | Destabilizing | 0.894 | D | 0.738 | prob.delet. | None | None | None | None | N |
| G/R | 0.3609 | ambiguous | 0.373 | ambiguous | -1.039 | Destabilizing | 0.864 | D | 0.725 | prob.delet. | N | 0.447482708 | None | None | N |
| G/S | 0.0895 | likely_benign | 0.0918 | benign | -1.353 | Destabilizing | 0.006 | N | 0.427 | neutral | N | 0.387199467 | None | None | N |
| G/T | 0.1099 | likely_benign | 0.1192 | benign | -1.109 | Destabilizing | 0.809 | D | 0.674 | neutral | None | None | None | None | N |
| G/V | 0.1477 | likely_benign | 0.1516 | benign | 0.173 | Stabilizing | 0.761 | D | 0.772 | deleterious | N | 0.473805305 | None | None | N |
| G/W | 0.4911 | ambiguous | 0.4963 | ambiguous | -1.299 | Destabilizing | 0.995 | D | 0.708 | prob.delet. | None | None | None | None | N |
| G/Y | 0.4026 | ambiguous | 0.4183 | ambiguous | -0.67 | Destabilizing | 0.985 | D | 0.812 | 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.