Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1849 | 5770;5771;5772 | chr2:178776319;178776318;178776317 | chr2:179641046;179641045;179641044 |
| N2AB | 1849 | 5770;5771;5772 | chr2:178776319;178776318;178776317 | chr2:179641046;179641045;179641044 |
| N2A | 1849 | 5770;5771;5772 | chr2:178776319;178776318;178776317 | chr2:179641046;179641045;179641044 |
| N2B | 1803 | 5632;5633;5634 | chr2:178776319;178776318;178776317 | chr2:179641046;179641045;179641044 |
| Novex-1 | 1803 | 5632;5633;5634 | chr2:178776319;178776318;178776317 | chr2:179641046;179641045;179641044 |
| Novex-2 | 1803 | 5632;5633;5634 | chr2:178776319;178776318;178776317 | chr2:179641046;179641045;179641044 |
| Novex-3 | 1849 | 5770;5771;5772 | chr2:178776319;178776318;178776317 | chr2:179641046;179641045;179641044 |
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/A | rs771747683  |
-0.732 | 1.0 | N | 0.708 | 0.381 | 0.254244900254 | gnomAD-2.1.1 | 1.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.63221E-04 | None | 0 | None | 0 | 0 | 0 |
| P/A | rs771747683 |
-0.732 | 1.0 | N | 0.708 | 0.381 | 0.254244900254 | gnomAD-4.0.0 | 3.42084E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 7.55744E-05 | None | 0 | 0 | 0 | 0 | 3.31159E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.117 | likely_benign | 0.1374 | benign | -0.927 | Destabilizing | 1.0 | D | 0.708 | prob.delet. | N | 0.421009875 | None | None | N |
| P/C | 0.8597 | likely_pathogenic | 0.894 | pathogenic | -0.718 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | N |
| P/D | 0.7495 | likely_pathogenic | 0.8124 | pathogenic | -0.894 | Destabilizing | 1.0 | D | 0.738 | prob.delet. | None | None | None | None | N |
| P/E | 0.6086 | likely_pathogenic | 0.6856 | pathogenic | -0.927 | Destabilizing | 1.0 | D | 0.738 | prob.delet. | None | None | None | None | N |
| P/F | 0.8799 | likely_pathogenic | 0.9037 | pathogenic | -0.754 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | N |
| P/G | 0.5528 | ambiguous | 0.6114 | pathogenic | -1.166 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| P/H | 0.5442 | ambiguous | 0.6155 | pathogenic | -0.622 | Destabilizing | 1.0 | D | 0.688 | prob.neutral | None | None | None | None | N |
| P/I | 0.6654 | likely_pathogenic | 0.7417 | pathogenic | -0.398 | Destabilizing | 1.0 | D | 0.734 | prob.delet. | None | None | None | None | N |
| P/K | 0.7731 | likely_pathogenic | 0.8207 | pathogenic | -0.918 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | N |
| P/L | 0.3785 | ambiguous | 0.4337 | ambiguous | -0.398 | Destabilizing | 1.0 | D | 0.741 | deleterious | N | 0.414191897 | None | None | N |
| P/M | 0.6052 | likely_pathogenic | 0.675 | pathogenic | -0.491 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | None | None | None | None | N |
| P/N | 0.5717 | likely_pathogenic | 0.6445 | pathogenic | -0.707 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | N |
| P/Q | 0.4312 | ambiguous | 0.4934 | ambiguous | -0.883 | Destabilizing | 1.0 | D | 0.712 | prob.delet. | N | 0.419953272 | None | None | N |
| P/R | 0.646 | likely_pathogenic | 0.6941 | pathogenic | -0.387 | Destabilizing | 1.0 | D | 0.721 | prob.delet. | N | 0.422571636 | None | None | N |
| P/S | 0.2466 | likely_benign | 0.298 | benign | -1.093 | Destabilizing | 1.0 | D | 0.744 | deleterious | N | 0.406531611 | None | None | N |
| P/T | 0.2338 | likely_benign | 0.2934 | benign | -1.022 | Destabilizing | 1.0 | D | 0.74 | deleterious | N | 0.423716002 | None | None | N |
| P/V | 0.4818 | ambiguous | 0.5531 | ambiguous | -0.54 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| P/W | 0.948 | likely_pathogenic | 0.962 | pathogenic | -0.905 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | N |
| P/Y | 0.8396 | likely_pathogenic | 0.8767 | pathogenic | -0.615 | 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.