Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2733 | 8422;8423;8424 | chr2:178770595;178770594;178770593 | chr2:179635322;179635321;179635320 |
| N2AB | 2733 | 8422;8423;8424 | chr2:178770595;178770594;178770593 | chr2:179635322;179635321;179635320 |
| N2A | 2733 | 8422;8423;8424 | chr2:178770595;178770594;178770593 | chr2:179635322;179635321;179635320 |
| N2B | 2687 | 8284;8285;8286 | chr2:178770595;178770594;178770593 | chr2:179635322;179635321;179635320 |
| Novex-1 | 2687 | 8284;8285;8286 | chr2:178770595;178770594;178770593 | chr2:179635322;179635321;179635320 |
| Novex-2 | 2687 | 8284;8285;8286 | chr2:178770595;178770594;178770593 | chr2:179635322;179635321;179635320 |
| Novex-3 | 2733 | 8422;8423;8424 | chr2:178770595;178770594;178770593 | chr2:179635322;179635321;179635320 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/S | rs1407570813  |
-0.21 | 0.669 | N | 0.43 | 0.207 | 0.263612267334 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.14758E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/S | rs1407570813 |
-0.21 | 0.669 | N | 0.43 | 0.207 | 0.263612267334 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/S | rs1407570813 |
-0.21 | 0.669 | N | 0.43 | 0.207 | 0.263612267334 | gnomAD-4.0.0 | 6.57713E-06 | None | None | None | None | N | None | 2.41593E-05 | 0 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.1148 | likely_benign | 0.1256 | benign | -0.724 | Destabilizing | 0.022 | N | 0.281 | neutral | N | 0.498487222 | None | None | N |
| P/C | 0.6609 | likely_pathogenic | 0.7572 | pathogenic | -0.47 | Destabilizing | 0.998 | D | 0.562 | neutral | None | None | None | None | N |
| P/D | 0.3708 | ambiguous | 0.4429 | ambiguous | -0.539 | Destabilizing | 0.974 | D | 0.439 | neutral | None | None | None | None | N |
| P/E | 0.2168 | likely_benign | 0.237 | benign | -0.633 | Destabilizing | 0.915 | D | 0.439 | neutral | None | None | None | None | N |
| P/F | 0.7162 | likely_pathogenic | 0.7979 | pathogenic | -0.847 | Destabilizing | 0.949 | D | 0.565 | neutral | None | None | None | None | N |
| P/G | 0.3783 | ambiguous | 0.4577 | ambiguous | -0.913 | Destabilizing | 0.842 | D | 0.527 | neutral | None | None | None | None | N |
| P/H | 0.2546 | likely_benign | 0.3073 | benign | -0.541 | Destabilizing | 0.997 | D | 0.548 | neutral | D | 0.610631646 | None | None | N |
| P/I | 0.5035 | ambiguous | 0.5826 | pathogenic | -0.359 | Destabilizing | 0.728 | D | 0.574 | neutral | None | None | None | None | N |
| P/K | 0.2962 | likely_benign | 0.3452 | ambiguous | -0.611 | Destabilizing | 0.915 | D | 0.441 | neutral | None | None | None | None | N |
| P/L | 0.2041 | likely_benign | 0.2302 | benign | -0.359 | Destabilizing | 0.005 | N | 0.398 | neutral | D | 0.527126711 | None | None | N |
| P/M | 0.4713 | ambiguous | 0.5472 | ambiguous | -0.27 | Destabilizing | 0.949 | D | 0.549 | neutral | None | None | None | None | N |
| P/N | 0.3725 | ambiguous | 0.4625 | ambiguous | -0.232 | Destabilizing | 0.991 | D | 0.554 | neutral | None | None | None | None | N |
| P/Q | 0.1641 | likely_benign | 0.1891 | benign | -0.479 | Destabilizing | 0.991 | D | 0.445 | neutral | None | None | None | None | N |
| P/R | 0.2071 | likely_benign | 0.2338 | benign | -0.082 | Destabilizing | 0.966 | D | 0.549 | neutral | D | 0.608957883 | None | None | N |
| P/S | 0.1452 | likely_benign | 0.1783 | benign | -0.608 | Destabilizing | 0.669 | D | 0.43 | neutral | N | 0.499101369 | None | None | N |
| P/T | 0.1479 | likely_benign | 0.1798 | benign | -0.601 | Destabilizing | 0.801 | D | 0.406 | neutral | D | 0.604483085 | None | None | N |
| P/V | 0.3583 | ambiguous | 0.4121 | ambiguous | -0.445 | Destabilizing | 0.728 | D | 0.517 | neutral | None | None | None | None | N |
| P/W | 0.7606 | likely_pathogenic | 0.8203 | pathogenic | -0.96 | Destabilizing | 0.998 | D | 0.619 | neutral | None | None | None | None | N |
| P/Y | 0.6142 | likely_pathogenic | 0.7071 | pathogenic | -0.661 | Destabilizing | 0.991 | D | 0.564 | 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.