Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3069 | 9430;9431;9432 | chr2:178768114;178768113;178768112 | chr2:179632841;179632840;179632839 |
| N2AB | 3069 | 9430;9431;9432 | chr2:178768114;178768113;178768112 | chr2:179632841;179632840;179632839 |
| N2A | 3069 | 9430;9431;9432 | chr2:178768114;178768113;178768112 | chr2:179632841;179632840;179632839 |
| N2B | 3023 | 9292;9293;9294 | chr2:178768114;178768113;178768112 | chr2:179632841;179632840;179632839 |
| Novex-1 | 3023 | 9292;9293;9294 | chr2:178768114;178768113;178768112 | chr2:179632841;179632840;179632839 |
| Novex-2 | 3023 | 9292;9293;9294 | chr2:178768114;178768113;178768112 | chr2:179632841;179632840;179632839 |
| Novex-3 | 3069 | 9430;9431;9432 | chr2:178768114;178768113;178768112 | chr2:179632841;179632840;179632839 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | None | None | 0.994 | D | 0.447 | 0.699 | 0.677981630403 | gnomAD-4.0.0 | 1.20033E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31251E-06 | 0 | 0 |
| V/I | rs2090837308  |
None | 0.543 | N | 0.249 | 0.326 | 0.471778926243 | gnomAD-4.0.0 | 1.3682E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.52309E-05 | None | 0 | 0 | 0 | 1.15931E-05 | 0 |
| V/L | None | None | 0.948 | D | 0.395 | 0.464 | 0.538792235971 | gnomAD-4.0.0 | 4.10461E-06 | None | None | None | None | I | None | 0 | 2.23654E-05 | None | 0 | 0 | None | 0 | 0 | 4.49648E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.7532 | likely_pathogenic | 0.8233 | pathogenic | -1.748 | Destabilizing | 0.994 | D | 0.447 | neutral | D | 0.537473718 | None | None | I |
| V/C | 0.961 | likely_pathogenic | 0.9709 | pathogenic | -1.193 | Destabilizing | 1.0 | D | 0.663 | neutral | None | None | None | None | I |
| V/D | 0.9848 | likely_pathogenic | 0.9864 | pathogenic | -1.7 | Destabilizing | 1.0 | D | 0.736 | prob.delet. | None | None | None | None | I |
| V/E | 0.9561 | likely_pathogenic | 0.9628 | pathogenic | -1.623 | Destabilizing | 0.999 | D | 0.689 | prob.neutral | D | 0.669819703 | None | None | I |
| V/F | 0.8096 | likely_pathogenic | 0.8413 | pathogenic | -1.134 | Destabilizing | 0.999 | D | 0.691 | prob.neutral | None | None | None | None | I |
| V/G | 0.8185 | likely_pathogenic | 0.8526 | pathogenic | -2.152 | Highly Destabilizing | 0.999 | D | 0.714 | prob.delet. | D | 0.707759255 | None | None | I |
| V/H | 0.9914 | likely_pathogenic | 0.9932 | pathogenic | -1.72 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | I |
| V/I | 0.1439 | likely_benign | 0.1692 | benign | -0.697 | Destabilizing | 0.543 | D | 0.249 | neutral | N | 0.520571575 | None | None | I |
| V/K | 0.9785 | likely_pathogenic | 0.9837 | pathogenic | -1.518 | Destabilizing | 1.0 | D | 0.691 | prob.neutral | None | None | None | None | I |
| V/L | 0.751 | likely_pathogenic | 0.8183 | pathogenic | -0.697 | Destabilizing | 0.948 | D | 0.395 | neutral | D | 0.612602828 | None | None | I |
| V/M | 0.6974 | likely_pathogenic | 0.7633 | pathogenic | -0.569 | Destabilizing | 0.999 | D | 0.701 | prob.neutral | None | None | None | None | I |
| V/N | 0.9584 | likely_pathogenic | 0.9671 | pathogenic | -1.436 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | I |
| V/P | 0.9945 | likely_pathogenic | 0.996 | pathogenic | -1.015 | Destabilizing | 1.0 | D | 0.718 | prob.delet. | None | None | None | None | I |
| V/Q | 0.9566 | likely_pathogenic | 0.9669 | pathogenic | -1.496 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | I |
| V/R | 0.9691 | likely_pathogenic | 0.9754 | pathogenic | -1.087 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | I |
| V/S | 0.8954 | likely_pathogenic | 0.9216 | pathogenic | -2.03 | Highly Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | I |
| V/T | 0.7322 | likely_pathogenic | 0.7987 | pathogenic | -1.836 | Destabilizing | 0.996 | D | 0.64 | neutral | None | None | None | None | I |
| V/W | 0.9964 | likely_pathogenic | 0.9973 | pathogenic | -1.444 | Destabilizing | 1.0 | D | 0.669 | neutral | None | None | None | None | I |
| V/Y | 0.9757 | likely_pathogenic | 0.9797 | pathogenic | -1.13 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | 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.