Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27384 | 82375;82376;82377 | chr2:178563982;178563981;178563980 | chr2:179428709;179428708;179428707 |
| N2AB | 25743 | 77452;77453;77454 | chr2:178563982;178563981;178563980 | chr2:179428709;179428708;179428707 |
| N2A | 24816 | 74671;74672;74673 | chr2:178563982;178563981;178563980 | chr2:179428709;179428708;179428707 |
| N2B | 18319 | 55180;55181;55182 | chr2:178563982;178563981;178563980 | chr2:179428709;179428708;179428707 |
| Novex-1 | 18444 | 55555;55556;55557 | chr2:178563982;178563981;178563980 | chr2:179428709;179428708;179428707 |
| Novex-2 | 18511 | 55756;55757;55758 | chr2:178563982;178563981;178563980 | chr2:179428709;179428708;179428707 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/E | rs775005409  |
-1.586 | 0.085 | N | 0.417 | 0.278 | 0.304108284078 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.58E-05 | None | 0 | None | 0 | 0 | 0 |
| A/E | rs775005409 |
-1.586 | 0.085 | N | 0.417 | 0.278 | 0.304108284078 | gnomAD-4.0.0 | 2.05274E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.04134E-05 | None | 0 | 0 | 8.99512E-07 | 0 | 0 |
| A/V | rs775005409 |
-0.517 | 0.966 | N | 0.669 | 0.338 | 0.41337360676 | gnomAD-2.1.1 | 2.5E-05 | None | None | None | None | N | None | 8.27E-05 | 2.83E-05 | None | 0 | 0 | None | 6.54E-05 | None | 0 | 1.57E-05 | 0 |
| A/V | rs775005409 |
-0.517 | 0.966 | N | 0.669 | 0.338 | 0.41337360676 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| A/V | rs775005409 |
-0.517 | 0.966 | N | 0.669 | 0.338 | 0.41337360676 | gnomAD-4.0.0 | 1.48747E-05 | None | None | None | None | N | None | 4.00759E-05 | 3.33556E-05 | None | 0 | 1.33821E-04 | None | 0 | 0 | 8.47662E-06 | 3.29402E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.4614 | ambiguous | 0.4496 | ambiguous | -1.153 | Destabilizing | 0.998 | D | 0.79 | deleterious | None | None | None | None | N |
| A/D | 0.4667 | ambiguous | 0.4562 | ambiguous | -2.415 | Highly Destabilizing | 0.921 | D | 0.679 | prob.neutral | None | None | None | None | N |
| A/E | 0.3109 | likely_benign | 0.2955 | benign | -2.473 | Highly Destabilizing | 0.085 | N | 0.417 | neutral | N | 0.455699547 | None | None | N |
| A/F | 0.5148 | ambiguous | 0.5144 | ambiguous | -1.314 | Destabilizing | 0.993 | D | 0.787 | deleterious | None | None | None | None | N |
| A/G | 0.1606 | likely_benign | 0.1541 | benign | -1.181 | Destabilizing | 0.927 | D | 0.534 | neutral | N | 0.471093074 | None | None | N |
| A/H | 0.6068 | likely_pathogenic | 0.6047 | pathogenic | -1.248 | Destabilizing | 0.994 | D | 0.763 | deleterious | None | None | None | None | N |
| A/I | 0.3671 | ambiguous | 0.3598 | ambiguous | -0.599 | Destabilizing | 0.979 | D | 0.757 | deleterious | None | None | None | None | N |
| A/K | 0.5251 | ambiguous | 0.5068 | ambiguous | -1.32 | Destabilizing | 0.921 | D | 0.698 | prob.neutral | None | None | None | None | N |
| A/L | 0.2603 | likely_benign | 0.2541 | benign | -0.599 | Destabilizing | 0.87 | D | 0.688 | prob.neutral | None | None | None | None | N |
| A/M | 0.2652 | likely_benign | 0.2641 | benign | -0.4 | Destabilizing | 0.998 | D | 0.746 | deleterious | None | None | None | None | N |
| A/N | 0.3498 | ambiguous | 0.3509 | ambiguous | -1.22 | Destabilizing | 0.959 | D | 0.759 | deleterious | None | None | None | None | N |
| A/P | 0.4629 | ambiguous | 0.4584 | ambiguous | -0.692 | Destabilizing | 0.973 | D | 0.758 | deleterious | N | 0.497874243 | None | None | N |
| A/Q | 0.3883 | ambiguous | 0.3853 | ambiguous | -1.515 | Destabilizing | 0.921 | D | 0.758 | deleterious | None | None | None | None | N |
| A/R | 0.4909 | ambiguous | 0.4687 | ambiguous | -0.823 | Destabilizing | 0.959 | D | 0.758 | deleterious | None | None | None | None | N |
| A/S | 0.085 | likely_benign | 0.0838 | benign | -1.372 | Destabilizing | 0.716 | D | 0.49 | neutral | N | 0.442652892 | None | None | N |
| A/T | 0.1228 | likely_benign | 0.1177 | benign | -1.369 | Destabilizing | 0.946 | D | 0.774 | deleterious | N | 0.467823612 | None | None | N |
| A/V | 0.1762 | likely_benign | 0.1649 | benign | -0.692 | Destabilizing | 0.966 | D | 0.669 | neutral | N | 0.506419156 | None | None | N |
| A/W | 0.8149 | likely_pathogenic | 0.8015 | pathogenic | -1.629 | Destabilizing | 0.998 | D | 0.784 | deleterious | None | None | None | None | N |
| A/Y | 0.5916 | likely_pathogenic | 0.5826 | pathogenic | -1.251 | Destabilizing | 0.998 | D | 0.783 | 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.