Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23745 | 71458;71459;71460 | chr2:178574899;178574898;178574897 | chr2:179439626;179439625;179439624 |
| N2AB | 22104 | 66535;66536;66537 | chr2:178574899;178574898;178574897 | chr2:179439626;179439625;179439624 |
| N2A | 21177 | 63754;63755;63756 | chr2:178574899;178574898;178574897 | chr2:179439626;179439625;179439624 |
| N2B | 14680 | 44263;44264;44265 | chr2:178574899;178574898;178574897 | chr2:179439626;179439625;179439624 |
| Novex-1 | 14805 | 44638;44639;44640 | chr2:178574899;178574898;178574897 | chr2:179439626;179439625;179439624 |
| Novex-2 | 14872 | 44839;44840;44841 | chr2:178574899;178574898;178574897 | chr2:179439626;179439625;179439624 |
| 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 | rs1280984914  |
-1.46 | 0.165 | N | 0.481 | 0.18 | 0.192905019026 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.14811E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/N | None | -1.256 | 0.912 | N | 0.575 | 0.24 | 0.294561560033 | gnomAD-2.1.1 | 8.12E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.8E-05 | 0 |
| T/N | None | -1.256 | 0.912 | N | 0.575 | 0.24 | 0.294561560033 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| T/N | None | -1.256 | 0.912 | N | 0.575 | 0.24 | 0.294561560033 | gnomAD-4.0.0 | 1.98422E-05 | None | None | None | None | N | None | 0 | 1.66934E-05 | None | 0 | 0 | None | 0 | 0 | 2.45881E-05 | 0 | 3.20461E-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 | 0.1166 | likely_benign | 0.1139 | benign | -1.359 | Destabilizing | 0.165 | N | 0.481 | neutral | N | 0.482866902 | None | None | N |
| T/C | 0.311 | likely_benign | 0.3046 | benign | -0.988 | Destabilizing | 0.981 | D | 0.584 | neutral | None | None | None | None | N |
| T/D | 0.6843 | likely_pathogenic | 0.7055 | pathogenic | -1.698 | Destabilizing | 0.818 | D | 0.611 | neutral | None | None | None | None | N |
| T/E | 0.5365 | ambiguous | 0.5999 | pathogenic | -1.477 | Destabilizing | 0.818 | D | 0.598 | neutral | None | None | None | None | N |
| T/F | 0.3119 | likely_benign | 0.31 | benign | -0.943 | Destabilizing | 0.69 | D | 0.614 | neutral | None | None | None | None | N |
| T/G | 0.3653 | ambiguous | 0.3566 | ambiguous | -1.768 | Destabilizing | 0.563 | D | 0.606 | neutral | None | None | None | None | N |
| T/H | 0.3594 | ambiguous | 0.3803 | ambiguous | -1.772 | Destabilizing | 0.981 | D | 0.607 | neutral | None | None | None | None | N |
| T/I | 0.1042 | likely_benign | 0.1145 | benign | -0.275 | Destabilizing | 0.001 | N | 0.342 | neutral | N | 0.474397432 | None | None | N |
| T/K | 0.3867 | ambiguous | 0.4253 | ambiguous | -0.61 | Destabilizing | 0.818 | D | 0.603 | neutral | None | None | None | None | N |
| T/L | 0.0864 | likely_benign | 0.0925 | benign | -0.275 | Destabilizing | 0.001 | N | 0.353 | neutral | None | None | None | None | N |
| T/M | 0.0826 | likely_benign | 0.0837 | benign | -0.422 | Destabilizing | 0.69 | D | 0.619 | neutral | None | None | None | None | N |
| T/N | 0.1714 | likely_benign | 0.1759 | benign | -1.325 | Destabilizing | 0.912 | D | 0.575 | neutral | N | 0.481309966 | None | None | N |
| T/P | 0.7278 | likely_pathogenic | 0.6893 | pathogenic | -0.608 | Destabilizing | 0.912 | D | 0.612 | neutral | N | 0.519355355 | None | None | N |
| T/Q | 0.3576 | ambiguous | 0.3914 | ambiguous | -1.061 | Destabilizing | 0.932 | D | 0.617 | neutral | None | None | None | None | N |
| T/R | 0.3433 | ambiguous | 0.3629 | ambiguous | -0.84 | Destabilizing | 0.818 | D | 0.613 | neutral | None | None | None | None | N |
| T/S | 0.1339 | likely_benign | 0.129 | benign | -1.537 | Destabilizing | 0.492 | N | 0.548 | neutral | N | 0.518865591 | None | None | N |
| T/V | 0.0893 | likely_benign | 0.0913 | benign | -0.608 | Destabilizing | 0.019 | N | 0.379 | neutral | None | None | None | None | N |
| T/W | 0.7357 | likely_pathogenic | 0.7214 | pathogenic | -1.115 | Destabilizing | 0.981 | D | 0.633 | neutral | None | None | None | None | N |
| T/Y | 0.37 | ambiguous | 0.3628 | ambiguous | -0.734 | Destabilizing | 0.818 | D | 0.612 | 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.