Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22168 | 66727;66728;66729 | chr2:178581766;178581765;178581764 | chr2:179446493;179446492;179446491 |
| N2AB | 20527 | 61804;61805;61806 | chr2:178581766;178581765;178581764 | chr2:179446493;179446492;179446491 |
| N2A | 19600 | 59023;59024;59025 | chr2:178581766;178581765;178581764 | chr2:179446493;179446492;179446491 |
| N2B | 13103 | 39532;39533;39534 | chr2:178581766;178581765;178581764 | chr2:179446493;179446492;179446491 |
| Novex-1 | 13228 | 39907;39908;39909 | chr2:178581766;178581765;178581764 | chr2:179446493;179446492;179446491 |
| Novex-2 | 13295 | 40108;40109;40110 | chr2:178581766;178581765;178581764 | chr2:179446493;179446492;179446491 |
| 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/I | rs762765266  |
0.397 | 0.994 | N | 0.519 | 0.333 | 0.345859378078 | gnomAD-2.1.1 | 4.26E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 6.02E-05 | None | 0 | None | 0 | 0 | 0 |
| T/K | None | None | 0.961 | N | 0.479 | 0.359 | 0.37281450598 | gnomAD-4.0.0 | 2.06477E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.70943E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.2279 | likely_benign | 0.2114 | benign | -0.571 | Destabilizing | 0.835 | D | 0.344 | neutral | N | 0.468879488 | None | None | N |
| T/C | 0.5046 | ambiguous | 0.4786 | ambiguous | -0.74 | Destabilizing | 1.0 | D | 0.543 | neutral | None | None | None | None | N |
| T/D | 0.9095 | likely_pathogenic | 0.8996 | pathogenic | -1.448 | Destabilizing | 0.97 | D | 0.481 | neutral | None | None | None | None | N |
| T/E | 0.8331 | likely_pathogenic | 0.8107 | pathogenic | -1.435 | Destabilizing | 0.97 | D | 0.478 | neutral | None | None | None | None | N |
| T/F | 0.5714 | likely_pathogenic | 0.5398 | ambiguous | -1.01 | Destabilizing | 0.999 | D | 0.663 | neutral | None | None | None | None | N |
| T/G | 0.6068 | likely_pathogenic | 0.5984 | pathogenic | -0.783 | Destabilizing | 0.97 | D | 0.536 | neutral | None | None | None | None | N |
| T/H | 0.5457 | ambiguous | 0.5291 | ambiguous | -1.276 | Destabilizing | 1.0 | D | 0.639 | neutral | None | None | None | None | N |
| T/I | 0.4735 | ambiguous | 0.416 | ambiguous | -0.099 | Destabilizing | 0.994 | D | 0.519 | neutral | N | 0.42928095 | None | None | N |
| T/K | 0.5882 | likely_pathogenic | 0.5695 | pathogenic | -0.596 | Destabilizing | 0.961 | D | 0.479 | neutral | N | 0.472458511 | None | None | N |
| T/L | 0.3302 | likely_benign | 0.3089 | benign | -0.099 | Destabilizing | 0.985 | D | 0.468 | neutral | None | None | None | None | N |
| T/M | 0.1844 | likely_benign | 0.1727 | benign | 0.261 | Stabilizing | 1.0 | D | 0.543 | neutral | None | None | None | None | N |
| T/N | 0.4716 | ambiguous | 0.4559 | ambiguous | -0.872 | Destabilizing | 0.97 | D | 0.433 | neutral | None | None | None | None | N |
| T/P | 0.864 | likely_pathogenic | 0.8427 | pathogenic | -0.227 | Destabilizing | 0.994 | D | 0.525 | neutral | N | 0.505571007 | None | None | N |
| T/Q | 0.5708 | likely_pathogenic | 0.5604 | ambiguous | -1.166 | Destabilizing | 0.996 | D | 0.545 | neutral | None | None | None | None | N |
| T/R | 0.5285 | ambiguous | 0.5036 | ambiguous | -0.354 | Destabilizing | 0.994 | D | 0.543 | neutral | N | 0.4752481 | None | None | N |
| T/S | 0.2038 | likely_benign | 0.1897 | benign | -0.914 | Destabilizing | 0.287 | N | 0.158 | neutral | N | 0.4843103 | None | None | N |
| T/V | 0.3031 | likely_benign | 0.2711 | benign | -0.227 | Destabilizing | 0.985 | D | 0.426 | neutral | None | None | None | None | N |
| T/W | 0.8684 | likely_pathogenic | 0.8463 | pathogenic | -1.061 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | N |
| T/Y | 0.5558 | ambiguous | 0.5434 | ambiguous | -0.676 | Destabilizing | 0.999 | D | 0.663 | 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.