Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18460 | 55603;55604;55605 | chr2:178601712;178601711;178601710 | chr2:179466439;179466438;179466437 |
| N2AB | 16819 | 50680;50681;50682 | chr2:178601712;178601711;178601710 | chr2:179466439;179466438;179466437 |
| N2A | 15892 | 47899;47900;47901 | chr2:178601712;178601711;178601710 | chr2:179466439;179466438;179466437 |
| N2B | 9395 | 28408;28409;28410 | chr2:178601712;178601711;178601710 | chr2:179466439;179466438;179466437 |
| Novex-1 | 9520 | 28783;28784;28785 | chr2:178601712;178601711;178601710 | chr2:179466439;179466438;179466437 |
| Novex-2 | 9587 | 28984;28985;28986 | chr2:178601712;178601711;178601710 | chr2:179466439;179466438;179466437 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | rs727503600  |
-0.714 | 0.999 | N | 0.584 | 0.493 | 0.41219620536 | gnomAD-2.1.1 | 6.52E-05 | None | None | None | None | N | None | 0 | 2.88401E-04 | None | 9.88E-05 | 0 | None | 0 | None | 0 | 4.73E-05 | 1.42369E-04 |
| T/A | rs727503600 |
-0.714 | 0.999 | N | 0.584 | 0.493 | 0.41219620536 | gnomAD-3.1.2 | 1.11794E-04 | None | None | None | None | N | None | 0 | 9.83736E-04 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 4.78011E-04 |
| T/A | rs727503600 |
-0.714 | 0.999 | N | 0.584 | 0.493 | 0.41219620536 | gnomAD-4.0.0 | 6.58568E-05 | None | None | None | None | N | None | 0 | 5.05663E-04 | None | 3.39951E-05 | 0 | None | 0 | 0 | 5.09078E-05 | 0 | 2.4091E-04 |
| T/I | rs372778818 |
0.085 | 1.0 | D | 0.863 | 0.477 | None | gnomAD-2.1.1 | 7.97E-05 | None | None | None | None | N | None | 8.71442E-04 | 2.88E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/I | rs372778818 |
0.085 | 1.0 | D | 0.863 | 0.477 | None | gnomAD-3.1.2 | 1.84223E-04 | None | None | None | None | N | None | 6.03544E-04 | 1.96876E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/I | rs372778818 |
0.085 | 1.0 | D | 0.863 | 0.477 | None | 1000 genomes | 3.99361E-04 | None | None | None | None | N | None | 8E-04 | 1.4E-03 | None | None | 0 | 0 | None | None | None | 0 | None |
| T/I | rs372778818 |
0.085 | 1.0 | D | 0.863 | 0.477 | None | gnomAD-4.0.0 | 3.66573E-05 | None | None | None | None | N | None | 6.55869E-04 | 1.01136E-04 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 6.42281E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1322 | likely_benign | 0.1484 | benign | -1.045 | Destabilizing | 0.999 | D | 0.584 | neutral | N | 0.504659639 | None | None | N |
| T/C | 0.4117 | ambiguous | 0.4609 | ambiguous | -0.776 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| T/D | 0.7538 | likely_pathogenic | 0.8022 | pathogenic | -0.622 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| T/E | 0.5313 | ambiguous | 0.5709 | pathogenic | -0.629 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| T/F | 0.2602 | likely_benign | 0.3185 | benign | -1.359 | Destabilizing | 1.0 | D | 0.891 | deleterious | None | None | None | None | N |
| T/G | 0.5052 | ambiguous | 0.5328 | ambiguous | -1.254 | Destabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | N |
| T/H | 0.2789 | likely_benign | 0.3085 | benign | -1.61 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| T/I | 0.1558 | likely_benign | 0.1806 | benign | -0.578 | Destabilizing | 1.0 | D | 0.863 | deleterious | D | 0.534771698 | None | None | N |
| T/K | 0.265 | likely_benign | 0.2743 | benign | -0.688 | Destabilizing | 1.0 | D | 0.848 | deleterious | N | 0.521570327 | None | None | N |
| T/L | 0.1307 | likely_benign | 0.1529 | benign | -0.578 | Destabilizing | 0.999 | D | 0.738 | prob.delet. | None | None | None | None | N |
| T/M | 0.1011 | likely_benign | 0.1086 | benign | -0.149 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| T/N | 0.2498 | likely_benign | 0.2846 | benign | -0.678 | Destabilizing | 1.0 | D | 0.74 | deleterious | None | None | None | None | N |
| T/P | 0.8226 | likely_pathogenic | 0.8574 | pathogenic | -0.705 | Destabilizing | 1.0 | D | 0.859 | deleterious | N | 0.517536881 | None | None | N |
| T/Q | 0.2919 | likely_benign | 0.31 | benign | -0.976 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| T/R | 0.216 | likely_benign | 0.2335 | benign | -0.417 | Destabilizing | 1.0 | D | 0.868 | deleterious | N | 0.492124791 | None | None | N |
| T/S | 0.177 | likely_benign | 0.1988 | benign | -0.955 | Destabilizing | 0.999 | D | 0.573 | neutral | D | 0.534424981 | None | None | N |
| T/V | 0.1343 | likely_benign | 0.16 | benign | -0.705 | Destabilizing | 0.999 | D | 0.61 | neutral | None | None | None | None | N |
| T/W | 0.6055 | likely_pathogenic | 0.6746 | pathogenic | -1.24 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| T/Y | 0.3299 | likely_benign | 0.3985 | ambiguous | -0.98 | Destabilizing | 1.0 | D | 0.881 | 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.