Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23972 | 72139;72140;72141 | chr2:178574218;178574217;178574216 | chr2:179438945;179438944;179438943 |
| N2AB | 22331 | 67216;67217;67218 | chr2:178574218;178574217;178574216 | chr2:179438945;179438944;179438943 |
| N2A | 21404 | 64435;64436;64437 | chr2:178574218;178574217;178574216 | chr2:179438945;179438944;179438943 |
| N2B | 14907 | 44944;44945;44946 | chr2:178574218;178574217;178574216 | chr2:179438945;179438944;179438943 |
| Novex-1 | 15032 | 45319;45320;45321 | chr2:178574218;178574217;178574216 | chr2:179438945;179438944;179438943 |
| Novex-2 | 15099 | 45520;45521;45522 | chr2:178574218;178574217;178574216 | chr2:179438945;179438944;179438943 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/P | None | None | 0.983 | N | 0.702 | 0.434 | 0.779625626859 | gnomAD-4.0.0 | 1.59211E-06 | None | None | None | None | N | None | 0 | 2.28686E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| L/Q | None | None | 0.983 | N | 0.679 | 0.396 | 0.685036625371 | gnomAD-4.0.0 | 1.59211E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.78133E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.5186 | ambiguous | 0.619 | pathogenic | -1.331 | Destabilizing | 0.845 | D | 0.593 | neutral | None | None | None | None | N |
| L/C | 0.6952 | likely_pathogenic | 0.7716 | pathogenic | -0.783 | Destabilizing | 0.999 | D | 0.655 | neutral | None | None | None | None | N |
| L/D | 0.9225 | likely_pathogenic | 0.9498 | pathogenic | -0.621 | Destabilizing | 0.975 | D | 0.701 | prob.neutral | None | None | None | None | N |
| L/E | 0.6234 | likely_pathogenic | 0.712 | pathogenic | -0.629 | Destabilizing | 0.975 | D | 0.703 | prob.neutral | None | None | None | None | N |
| L/F | 0.2926 | likely_benign | 0.3818 | ambiguous | -0.84 | Destabilizing | 0.975 | D | 0.643 | neutral | None | None | None | None | N |
| L/G | 0.7377 | likely_pathogenic | 0.8152 | pathogenic | -1.627 | Destabilizing | 0.975 | D | 0.705 | prob.neutral | None | None | None | None | N |
| L/H | 0.4158 | ambiguous | 0.5438 | ambiguous | -0.724 | Destabilizing | 0.999 | D | 0.685 | prob.neutral | None | None | None | None | N |
| L/I | 0.1322 | likely_benign | 0.1456 | benign | -0.612 | Destabilizing | 0.845 | D | 0.545 | neutral | None | None | None | None | N |
| L/K | 0.4993 | ambiguous | 0.5907 | pathogenic | -0.869 | Destabilizing | 0.975 | D | 0.684 | prob.neutral | None | None | None | None | N |
| L/M | 0.1145 | likely_benign | 0.1319 | benign | -0.535 | Destabilizing | 0.63 | D | 0.41 | neutral | N | 0.412988919 | None | None | N |
| L/N | 0.587 | likely_pathogenic | 0.6703 | pathogenic | -0.693 | Destabilizing | 0.975 | D | 0.692 | prob.neutral | None | None | None | None | N |
| L/P | 0.9539 | likely_pathogenic | 0.9679 | pathogenic | -0.819 | Destabilizing | 0.983 | D | 0.702 | prob.neutral | N | 0.492195291 | None | None | N |
| L/Q | 0.212 | likely_benign | 0.2897 | benign | -0.864 | Destabilizing | 0.983 | D | 0.679 | prob.neutral | N | 0.44890686 | None | None | N |
| L/R | 0.4149 | ambiguous | 0.5376 | ambiguous | -0.269 | Destabilizing | 0.967 | D | 0.669 | neutral | N | 0.482270072 | None | None | N |
| L/S | 0.5595 | ambiguous | 0.6852 | pathogenic | -1.292 | Destabilizing | 0.95 | D | 0.59 | neutral | None | None | None | None | N |
| L/T | 0.3932 | ambiguous | 0.4627 | ambiguous | -1.186 | Destabilizing | 0.073 | N | 0.304 | neutral | None | None | None | None | N |
| L/V | 0.1389 | likely_benign | 0.165 | benign | -0.819 | Destabilizing | 0.805 | D | 0.564 | neutral | N | 0.467377978 | None | None | N |
| L/W | 0.4942 | ambiguous | 0.6207 | pathogenic | -0.887 | Destabilizing | 0.999 | D | 0.687 | prob.neutral | None | None | None | None | N |
| L/Y | 0.5736 | likely_pathogenic | 0.6516 | pathogenic | -0.67 | Destabilizing | 0.987 | D | 0.673 | 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.