Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17078 | 51457;51458;51459 | chr2:178610294;178610293;178610292 | chr2:179475021;179475020;179475019 |
| N2AB | 15437 | 46534;46535;46536 | chr2:178610294;178610293;178610292 | chr2:179475021;179475020;179475019 |
| N2A | 14510 | 43753;43754;43755 | chr2:178610294;178610293;178610292 | chr2:179475021;179475020;179475019 |
| N2B | 8013 | 24262;24263;24264 | chr2:178610294;178610293;178610292 | chr2:179475021;179475020;179475019 |
| Novex-1 | 8138 | 24637;24638;24639 | chr2:178610294;178610293;178610292 | chr2:179475021;179475020;179475019 |
| Novex-2 | 8205 | 24838;24839;24840 | chr2:178610294;178610293;178610292 | chr2:179475021;179475020;179475019 |
| 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/Q | None | None | 1.0 | D | 0.689 | 0.507 | 0.52633505579 | gnomAD-4.0.0 | 1.59307E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86207E-06 | 0 | 0 |
| P/S | None | None | 1.0 | D | 0.749 | 0.467 | 0.480046427281 | gnomAD-4.0.0 | 1.59308E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43349E-05 | 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 | 0.1215 | likely_benign | 0.1125 | benign | -0.844 | Destabilizing | 1.0 | D | 0.677 | prob.neutral | N | 0.50962853 | None | None | I |
| P/C | 0.7891 | likely_pathogenic | 0.8166 | pathogenic | -0.664 | Destabilizing | 1.0 | D | 0.654 | neutral | None | None | None | None | I |
| P/D | 0.5189 | ambiguous | 0.5047 | ambiguous | -0.55 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | I |
| P/E | 0.3524 | ambiguous | 0.3328 | benign | -0.65 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | None | None | None | None | I |
| P/F | 0.8767 | likely_pathogenic | 0.8855 | pathogenic | -0.949 | Destabilizing | 1.0 | D | 0.607 | neutral | None | None | None | None | I |
| P/G | 0.5279 | ambiguous | 0.5144 | ambiguous | -1.025 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | I |
| P/H | 0.4032 | ambiguous | 0.4063 | ambiguous | -0.55 | Destabilizing | 1.0 | D | 0.631 | neutral | None | None | None | None | I |
| P/I | 0.657 | likely_pathogenic | 0.6369 | pathogenic | -0.502 | Destabilizing | 1.0 | D | 0.671 | neutral | None | None | None | None | I |
| P/K | 0.4667 | ambiguous | 0.4424 | ambiguous | -0.663 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | I |
| P/L | 0.3095 | likely_benign | 0.3162 | benign | -0.502 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | D | 0.635987482 | None | None | I |
| P/M | 0.5709 | likely_pathogenic | 0.563 | ambiguous | -0.345 | Destabilizing | 1.0 | D | 0.633 | neutral | None | None | None | None | I |
| P/N | 0.4634 | ambiguous | 0.4668 | ambiguous | -0.365 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | I |
| P/Q | 0.2447 | likely_benign | 0.2363 | benign | -0.637 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | D | 0.58254946 | None | None | I |
| P/R | 0.3848 | ambiguous | 0.3686 | ambiguous | -0.077 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | D | 0.550646089 | None | None | I |
| P/S | 0.2066 | likely_benign | 0.2065 | benign | -0.784 | Destabilizing | 1.0 | D | 0.749 | deleterious | D | 0.572765986 | None | None | I |
| P/T | 0.1994 | likely_benign | 0.1866 | benign | -0.782 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | D | 0.561005275 | None | None | I |
| P/V | 0.4366 | ambiguous | 0.4082 | ambiguous | -0.579 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | I |
| P/W | 0.9349 | likely_pathogenic | 0.9403 | pathogenic | -1.016 | Destabilizing | 1.0 | D | 0.659 | neutral | None | None | None | None | I |
| P/Y | 0.8196 | likely_pathogenic | 0.8302 | pathogenic | -0.734 | Destabilizing | 1.0 | D | 0.615 | 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.