Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16566 | 49921;49922;49923 | chr2:178613025;178613024;178613023 | chr2:179477752;179477751;179477750 |
| N2AB | 14925 | 44998;44999;45000 | chr2:178613025;178613024;178613023 | chr2:179477752;179477751;179477750 |
| N2A | 13998 | 42217;42218;42219 | chr2:178613025;178613024;178613023 | chr2:179477752;179477751;179477750 |
| N2B | 7501 | 22726;22727;22728 | chr2:178613025;178613024;178613023 | chr2:179477752;179477751;179477750 |
| Novex-1 | 7626 | 23101;23102;23103 | chr2:178613025;178613024;178613023 | chr2:179477752;179477751;179477750 |
| Novex-2 | 7693 | 23302;23303;23304 | chr2:178613025;178613024;178613023 | chr2:179477752;179477751;179477750 |
| 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 | None | None | 0.999 | D | 0.451 | 0.495 | 0.342631996419 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.07533E-05 | 0 |
| T/I | rs749465647  |
-0.244 | 1.0 | D | 0.711 | 0.526 | 0.464528537357 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 6.47E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| T/I | rs749465647 |
-0.244 | 1.0 | D | 0.711 | 0.526 | 0.464528537357 | gnomAD-4.0.0 | 9.58447E-06 | None | None | None | None | N | None | 2.9933E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.07981E-05 | 1.15974E-05 | 0 |
| T/R | rs749465647 |
None | 1.0 | N | 0.697 | 0.488 | 0.471620082127 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| T/R | rs749465647 |
None | 1.0 | N | 0.697 | 0.488 | 0.471620082127 | gnomAD-4.0.0 | 9.30151E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.18721E-05 | 0 | 1.60262E-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 | 0.1636 | likely_benign | 0.151 | benign | -0.67 | Destabilizing | 0.999 | D | 0.451 | neutral | D | 0.55821549 | None | None | N |
| T/C | 0.6916 | likely_pathogenic | 0.6247 | pathogenic | -0.341 | Destabilizing | 1.0 | D | 0.639 | neutral | None | None | None | None | N |
| T/D | 0.4252 | ambiguous | 0.4285 | ambiguous | 0.098 | Stabilizing | 1.0 | D | 0.722 | prob.delet. | None | None | None | None | N |
| T/E | 0.436 | ambiguous | 0.4687 | ambiguous | 0.043 | Stabilizing | 1.0 | D | 0.73 | prob.delet. | None | None | None | None | N |
| T/F | 0.4181 | ambiguous | 0.3723 | ambiguous | -1.047 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | N |
| T/G | 0.335 | likely_benign | 0.3047 | benign | -0.839 | Destabilizing | 1.0 | D | 0.694 | prob.neutral | None | None | None | None | N |
| T/H | 0.3414 | ambiguous | 0.3059 | benign | -1.193 | Destabilizing | 1.0 | D | 0.661 | neutral | None | None | None | None | N |
| T/I | 0.4469 | ambiguous | 0.4212 | ambiguous | -0.329 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | D | 0.606694823 | None | None | N |
| T/K | 0.2886 | likely_benign | 0.3113 | benign | -0.424 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | N | 0.490914571 | None | None | N |
| T/L | 0.209 | likely_benign | 0.1833 | benign | -0.329 | Destabilizing | 0.999 | D | 0.64 | neutral | None | None | None | None | N |
| T/M | 0.1454 | likely_benign | 0.1336 | benign | 0.074 | Stabilizing | 1.0 | D | 0.653 | neutral | None | None | None | None | N |
| T/N | 0.1305 | likely_benign | 0.1079 | benign | -0.224 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | None | None | None | None | N |
| T/P | 0.5779 | likely_pathogenic | 0.5912 | pathogenic | -0.413 | Destabilizing | 1.0 | D | 0.696 | prob.neutral | D | 0.685923458 | None | None | N |
| T/Q | 0.3096 | likely_benign | 0.3098 | benign | -0.516 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | None | None | None | None | N |
| T/R | 0.2846 | likely_benign | 0.3017 | benign | -0.152 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | N | 0.49184205 | None | None | N |
| T/S | 0.1533 | likely_benign | 0.1255 | benign | -0.524 | Destabilizing | 0.999 | D | 0.481 | neutral | N | 0.469931482 | None | None | N |
| T/V | 0.342 | ambiguous | 0.3092 | benign | -0.413 | Destabilizing | 0.999 | D | 0.573 | neutral | None | None | None | None | N |
| T/W | 0.7793 | likely_pathogenic | 0.769 | pathogenic | -0.95 | Destabilizing | 1.0 | D | 0.661 | neutral | None | None | None | None | N |
| T/Y | 0.3752 | ambiguous | 0.3477 | ambiguous | -0.699 | Destabilizing | 1.0 | D | 0.704 | prob.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.