Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17372 | 52339;52340;52341 | chr2:178608897;178608896;178608895 | chr2:179473624;179473623;179473622 |
| N2AB | 15731 | 47416;47417;47418 | chr2:178608897;178608896;178608895 | chr2:179473624;179473623;179473622 |
| N2A | 14804 | 44635;44636;44637 | chr2:178608897;178608896;178608895 | chr2:179473624;179473623;179473622 |
| N2B | 8307 | 25144;25145;25146 | chr2:178608897;178608896;178608895 | chr2:179473624;179473623;179473622 |
| Novex-1 | 8432 | 25519;25520;25521 | chr2:178608897;178608896;178608895 | chr2:179473624;179473623;179473622 |
| Novex-2 | 8499 | 25720;25721;25722 | chr2:178608897;178608896;178608895 | chr2:179473624;179473623;179473622 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/R | None | None | 1.0 | N | 0.873 | 0.504 | 0.484837542351 | gnomAD-4.0.0 | 2.05925E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.70016E-06 | 0 | 0 |
| P/S | rs2055579042  |
None | 0.999 | N | 0.829 | 0.383 | 0.362361684037 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/S | rs2055579042 |
None | 0.999 | N | 0.829 | 0.383 | 0.362361684037 | gnomAD-4.0.0 | 6.58215E-06 | None | None | None | None | I | None | 2.41476E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/T | None | None | 0.999 | N | 0.831 | 0.393 | 0.433823933641 | gnomAD-4.0.0 | 1.37295E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.80013E-06 | 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 | 0.1588 | likely_benign | 0.1753 | benign | -1.665 | Destabilizing | 0.996 | D | 0.753 | deleterious | N | 0.493599 | None | None | I |
| P/C | 0.7308 | likely_pathogenic | 0.7424 | pathogenic | -0.967 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | I |
| P/D | 0.8967 | likely_pathogenic | 0.9126 | pathogenic | -2.014 | Highly Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | I |
| P/E | 0.632 | likely_pathogenic | 0.6657 | pathogenic | -2.03 | Highly Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | I |
| P/F | 0.7859 | likely_pathogenic | 0.8166 | pathogenic | -1.357 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | I |
| P/G | 0.7404 | likely_pathogenic | 0.7646 | pathogenic | -1.97 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | I |
| P/H | 0.5794 | likely_pathogenic | 0.6049 | pathogenic | -1.592 | Destabilizing | 1.0 | D | 0.865 | deleterious | None | None | None | None | I |
| P/I | 0.5274 | ambiguous | 0.5654 | pathogenic | -0.915 | Destabilizing | 0.998 | D | 0.843 | deleterious | None | None | None | None | I |
| P/K | 0.6176 | likely_pathogenic | 0.641 | pathogenic | -1.433 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | I |
| P/L | 0.3462 | ambiguous | 0.3886 | ambiguous | -0.915 | Destabilizing | 0.998 | D | 0.853 | deleterious | N | 0.516570651 | None | None | I |
| P/M | 0.5793 | likely_pathogenic | 0.6113 | pathogenic | -0.58 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | I |
| P/N | 0.797 | likely_pathogenic | 0.8197 | pathogenic | -1.178 | Destabilizing | 1.0 | D | 0.866 | deleterious | None | None | None | None | I |
| P/Q | 0.4328 | ambiguous | 0.4672 | ambiguous | -1.406 | Destabilizing | 1.0 | D | 0.853 | deleterious | N | 0.506402433 | None | None | I |
| P/R | 0.5001 | ambiguous | 0.5281 | ambiguous | -0.843 | Destabilizing | 1.0 | D | 0.873 | deleterious | N | 0.501478136 | None | None | I |
| P/S | 0.3834 | ambiguous | 0.4186 | ambiguous | -1.587 | Destabilizing | 0.999 | D | 0.829 | deleterious | N | 0.483436333 | None | None | I |
| P/T | 0.3797 | ambiguous | 0.4144 | ambiguous | -1.513 | Destabilizing | 0.999 | D | 0.831 | deleterious | N | 0.507669881 | None | None | I |
| P/V | 0.4128 | ambiguous | 0.4434 | ambiguous | -1.133 | Destabilizing | 0.91 | D | 0.583 | neutral | None | None | None | None | I |
| P/W | 0.9359 | likely_pathogenic | 0.9446 | pathogenic | -1.58 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | I |
| P/Y | 0.797 | likely_pathogenic | 0.8228 | pathogenic | -1.327 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | I |
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.