Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2885 | 8878;8879;8880 | chr2:178769928;178769927;178769926 | chr2:179634655;179634654;179634653 |
| N2AB | 2885 | 8878;8879;8880 | chr2:178769928;178769927;178769926 | chr2:179634655;179634654;179634653 |
| N2A | 2885 | 8878;8879;8880 | chr2:178769928;178769927;178769926 | chr2:179634655;179634654;179634653 |
| N2B | 2839 | 8740;8741;8742 | chr2:178769928;178769927;178769926 | chr2:179634655;179634654;179634653 |
| Novex-1 | 2839 | 8740;8741;8742 | chr2:178769928;178769927;178769926 | chr2:179634655;179634654;179634653 |
| Novex-2 | 2839 | 8740;8741;8742 | chr2:178769928;178769927;178769926 | chr2:179634655;179634654;179634653 |
| Novex-3 | 2885 | 8878;8879;8880 | chr2:178769928;178769927;178769926 | chr2:179634655;179634654;179634653 |
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 | rs756258905  |
0.172 | 0.992 | N | 0.608 | 0.508 | None | gnomAD-2.1.1 | 2.79E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.18E-05 | 0 |
| T/I | rs756258905 |
0.172 | 0.992 | N | 0.608 | 0.508 | None | gnomAD-4.0.0 | 2.70398E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.28483E-05 | 0 | 6.04303E-05 |
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 | 0.2079 | likely_benign | 0.2539 | benign | -0.72 | Destabilizing | 0.996 | D | 0.423 | neutral | D | 0.590200377 | None | None | N |
| T/C | 0.6993 | likely_pathogenic | 0.7919 | pathogenic | -0.436 | Destabilizing | 1.0 | D | 0.657 | neutral | None | None | None | None | N |
| T/D | 0.7988 | likely_pathogenic | 0.8558 | pathogenic | -0.226 | Destabilizing | 1.0 | D | 0.683 | prob.neutral | None | None | None | None | N |
| T/E | 0.5748 | likely_pathogenic | 0.6424 | pathogenic | -0.246 | Destabilizing | 1.0 | D | 0.677 | prob.neutral | None | None | None | None | N |
| T/F | 0.6307 | likely_pathogenic | 0.7071 | pathogenic | -0.833 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | N |
| T/G | 0.548 | ambiguous | 0.6412 | pathogenic | -0.955 | Destabilizing | 1.0 | D | 0.681 | prob.neutral | None | None | None | None | N |
| T/H | 0.5879 | likely_pathogenic | 0.6661 | pathogenic | -1.217 | Destabilizing | 1.0 | D | 0.704 | prob.neutral | None | None | None | None | N |
| T/I | 0.3079 | likely_benign | 0.3599 | ambiguous | -0.191 | Destabilizing | 0.992 | D | 0.608 | neutral | N | 0.51867964 | None | None | N |
| T/K | 0.4044 | ambiguous | 0.4906 | ambiguous | -0.764 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | D | 0.523448568 | None | None | N |
| T/L | 0.1898 | likely_benign | 0.2183 | benign | -0.191 | Destabilizing | 0.994 | D | 0.475 | neutral | None | None | None | None | N |
| T/M | 0.1449 | likely_benign | 0.1588 | benign | 0.093 | Stabilizing | 1.0 | D | 0.667 | neutral | None | None | None | None | N |
| T/N | 0.3263 | likely_benign | 0.389 | ambiguous | -0.661 | Destabilizing | 1.0 | D | 0.631 | neutral | None | None | None | None | N |
| T/P | 0.5444 | ambiguous | 0.6816 | pathogenic | -0.335 | Destabilizing | 1.0 | D | 0.657 | neutral | D | 0.632245322 | None | None | N |
| T/Q | 0.4005 | ambiguous | 0.47 | ambiguous | -0.853 | Destabilizing | 1.0 | D | 0.68 | prob.neutral | None | None | None | None | N |
| T/R | 0.3706 | ambiguous | 0.4647 | ambiguous | -0.464 | Destabilizing | 1.0 | D | 0.66 | neutral | N | 0.519360383 | None | None | N |
| T/S | 0.2321 | likely_benign | 0.2688 | benign | -0.91 | Destabilizing | 0.998 | D | 0.435 | neutral | D | 0.558136226 | None | None | N |
| T/V | 0.2372 | likely_benign | 0.2697 | benign | -0.335 | Destabilizing | 0.813 | D | 0.272 | neutral | None | None | None | None | N |
| T/W | 0.8911 | likely_pathogenic | 0.9335 | pathogenic | -0.778 | Destabilizing | 1.0 | D | 0.732 | prob.delet. | None | None | None | None | N |
| T/Y | 0.7302 | likely_pathogenic | 0.8073 | pathogenic | -0.557 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | 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.