Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2292 | 7099;7100;7101 | chr2:178774390;178774389;178774388 | chr2:179639117;179639116;179639115 |
| N2AB | 2292 | 7099;7100;7101 | chr2:178774390;178774389;178774388 | chr2:179639117;179639116;179639115 |
| N2A | 2292 | 7099;7100;7101 | chr2:178774390;178774389;178774388 | chr2:179639117;179639116;179639115 |
| N2B | 2246 | 6961;6962;6963 | chr2:178774390;178774389;178774388 | chr2:179639117;179639116;179639115 |
| Novex-1 | 2246 | 6961;6962;6963 | chr2:178774390;178774389;178774388 | chr2:179639117;179639116;179639115 |
| Novex-2 | 2246 | 6961;6962;6963 | chr2:178774390;178774389;178774388 | chr2:179639117;179639116;179639115 |
| Novex-3 | 2292 | 7099;7100;7101 | chr2:178774390;178774389;178774388 | chr2:179639117;179639116;179639115 |
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/L | rs1281132116  |
-0.172 | 0.012 | N | 0.315 | 0.301 | 0.548571244948 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.82E-06 | 0 |
| P/L | rs1281132116 |
-0.172 | 0.012 | N | 0.315 | 0.301 | 0.548571244948 | gnomAD-4.0.0 | 6.84136E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.6559E-05 |
| P/Q | None | None | 0.934 | N | 0.46 | 0.284 | 0.462022758384 | gnomAD-4.0.0 | 6.84136E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.6559E-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 | 0.1772 | likely_benign | 0.1749 | benign | -0.723 | Destabilizing | 0.625 | D | 0.372 | neutral | N | 0.432616177 | None | None | N |
| P/C | 0.7439 | likely_pathogenic | 0.729 | pathogenic | -0.686 | Destabilizing | 0.998 | D | 0.521 | neutral | None | None | None | None | N |
| P/D | 0.6752 | likely_pathogenic | 0.6654 | pathogenic | -0.378 | Destabilizing | 0.974 | D | 0.46 | neutral | None | None | None | None | N |
| P/E | 0.4512 | ambiguous | 0.454 | ambiguous | -0.467 | Destabilizing | 0.842 | D | 0.434 | neutral | None | None | None | None | N |
| P/F | 0.7638 | likely_pathogenic | 0.7586 | pathogenic | -0.779 | Destabilizing | 0.949 | D | 0.541 | neutral | None | None | None | None | N |
| P/G | 0.4918 | ambiguous | 0.4824 | ambiguous | -0.908 | Destabilizing | 0.915 | D | 0.475 | neutral | None | None | None | None | N |
| P/H | 0.3643 | ambiguous | 0.3576 | ambiguous | -0.435 | Destabilizing | 0.991 | D | 0.469 | neutral | None | None | None | None | N |
| P/I | 0.5503 | ambiguous | 0.5482 | ambiguous | -0.371 | Destabilizing | 0.904 | D | 0.565 | neutral | None | None | None | None | N |
| P/K | 0.4314 | ambiguous | 0.4296 | ambiguous | -0.601 | Destabilizing | 0.728 | D | 0.382 | neutral | None | None | None | None | N |
| P/L | 0.2203 | likely_benign | 0.2215 | benign | -0.371 | Destabilizing | 0.012 | N | 0.315 | neutral | N | 0.490136297 | None | None | N |
| P/M | 0.5168 | ambiguous | 0.5102 | ambiguous | -0.382 | Destabilizing | 0.949 | D | 0.48 | neutral | None | None | None | None | N |
| P/N | 0.5267 | ambiguous | 0.5189 | ambiguous | -0.332 | Destabilizing | 0.974 | D | 0.487 | neutral | None | None | None | None | N |
| P/Q | 0.2922 | likely_benign | 0.2918 | benign | -0.563 | Destabilizing | 0.934 | D | 0.46 | neutral | N | 0.489823889 | None | None | N |
| P/R | 0.2786 | likely_benign | 0.2813 | benign | -0.073 | Destabilizing | 0.005 | N | 0.208 | neutral | N | 0.410945194 | None | None | N |
| P/S | 0.2677 | likely_benign | 0.2598 | benign | -0.752 | Destabilizing | 0.891 | D | 0.462 | neutral | N | 0.459563816 | None | None | N |
| P/T | 0.2022 | likely_benign | 0.1993 | benign | -0.734 | Destabilizing | 0.891 | D | 0.456 | neutral | N | 0.489823889 | None | None | N |
| P/V | 0.3731 | ambiguous | 0.3738 | ambiguous | -0.452 | Destabilizing | 0.728 | D | 0.472 | neutral | None | None | None | None | N |
| P/W | 0.8511 | likely_pathogenic | 0.844 | pathogenic | -0.86 | Destabilizing | 0.998 | D | 0.566 | neutral | None | None | None | None | N |
| P/Y | 0.6991 | likely_pathogenic | 0.6921 | pathogenic | -0.569 | Destabilizing | 0.991 | D | 0.539 | 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.