Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14088 | 42487;42488;42489 | chr2:178634519;178634518;178634517 | chr2:179499246;179499245;179499244 |
| N2AB | 12447 | 37564;37565;37566 | chr2:178634519;178634518;178634517 | chr2:179499246;179499245;179499244 |
| N2A | 11520 | 34783;34784;34785 | chr2:178634519;178634518;178634517 | chr2:179499246;179499245;179499244 |
| N2B | 5023 | 15292;15293;15294 | chr2:178634519;178634518;178634517 | chr2:179499246;179499245;179499244 |
| Novex-1 | 5148 | 15667;15668;15669 | chr2:178634519;178634518;178634517 | chr2:179499246;179499245;179499244 |
| Novex-2 | 5215 | 15868;15869;15870 | chr2:178634519;178634518;178634517 | chr2:179499246;179499245;179499244 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | None | None | 1.0 | N | 0.536 | 0.389 | 0.202086224978 | gnomAD-4.0.0 | 6.8438E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99645E-07 | 0 | 0 |
| G/E | rs2060182595  |
None | 1.0 | N | 0.7 | 0.393 | 0.368743488249 | gnomAD-4.0.0 | 6.8438E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.52207E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.3959 | ambiguous | 0.4206 | ambiguous | -0.291 | Destabilizing | 1.0 | D | 0.536 | neutral | N | 0.504754178 | None | None | N |
| G/C | 0.7057 | likely_pathogenic | 0.7273 | pathogenic | -0.87 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | N |
| G/D | 0.3875 | ambiguous | 0.3979 | ambiguous | -0.558 | Destabilizing | 0.921 | D | 0.527 | neutral | None | None | None | None | N |
| G/E | 0.4489 | ambiguous | 0.4695 | ambiguous | -0.717 | Destabilizing | 1.0 | D | 0.7 | prob.neutral | N | 0.451722205 | None | None | N |
| G/F | 0.8577 | likely_pathogenic | 0.8633 | pathogenic | -0.994 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | N |
| G/H | 0.8356 | likely_pathogenic | 0.8415 | pathogenic | -0.627 | Destabilizing | 1.0 | D | 0.687 | prob.neutral | None | None | None | None | N |
| G/I | 0.77 | likely_pathogenic | 0.7615 | pathogenic | -0.383 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | N |
| G/K | 0.8276 | likely_pathogenic | 0.8112 | pathogenic | -0.846 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | N |
| G/L | 0.7711 | likely_pathogenic | 0.7752 | pathogenic | -0.383 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| G/M | 0.83 | likely_pathogenic | 0.8311 | pathogenic | -0.394 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | N |
| G/N | 0.5437 | ambiguous | 0.5373 | ambiguous | -0.479 | Destabilizing | 1.0 | D | 0.607 | neutral | None | None | None | None | N |
| G/P | 0.9662 | likely_pathogenic | 0.9649 | pathogenic | -0.318 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | N |
| G/Q | 0.7544 | likely_pathogenic | 0.7602 | pathogenic | -0.763 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | N |
| G/R | 0.8246 | likely_pathogenic | 0.8125 | pathogenic | -0.423 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | D | 0.545730797 | None | None | N |
| G/S | 0.2938 | likely_benign | 0.3046 | benign | -0.637 | Destabilizing | 1.0 | D | 0.563 | neutral | None | None | None | None | N |
| G/T | 0.6003 | likely_pathogenic | 0.6149 | pathogenic | -0.724 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | None | N |
| G/V | 0.6666 | likely_pathogenic | 0.6726 | pathogenic | -0.318 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | D | 0.611304144 | None | None | N |
| G/W | 0.8028 | likely_pathogenic | 0.8178 | pathogenic | -1.17 | Destabilizing | 1.0 | D | 0.712 | prob.delet. | None | None | None | None | N |
| G/Y | 0.7638 | likely_pathogenic | 0.7783 | pathogenic | -0.81 | Destabilizing | 1.0 | D | 0.696 | 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.