Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28678 | 86257;86258;86259 | chr2:178560100;178560099;178560098 | chr2:179424827;179424826;179424825 |
| N2AB | 27037 | 81334;81335;81336 | chr2:178560100;178560099;178560098 | chr2:179424827;179424826;179424825 |
| N2A | 26110 | 78553;78554;78555 | chr2:178560100;178560099;178560098 | chr2:179424827;179424826;179424825 |
| N2B | 19613 | 59062;59063;59064 | chr2:178560100;178560099;178560098 | chr2:179424827;179424826;179424825 |
| Novex-1 | 19738 | 59437;59438;59439 | chr2:178560100;178560099;178560098 | chr2:179424827;179424826;179424825 |
| Novex-2 | 19805 | 59638;59639;59640 | chr2:178560100;178560099;178560098 | chr2:179424827;179424826;179424825 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/N | rs761898404  |
-0.979 | 1.0 | N | 0.717 | 0.409 | 0.388334884743 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 4.65E-05 | 0 | 0 |
| D/V | None | None | 1.0 | N | 0.754 | 0.611 | 0.729768766201 | gnomAD-4.0.0 | 1.59136E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.77562E-05 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.8985 | likely_pathogenic | 0.862 | pathogenic | -0.829 | Destabilizing | 1.0 | D | 0.741 | deleterious | N | 0.482853675 | None | None | I |
| D/C | 0.9701 | likely_pathogenic | 0.9544 | pathogenic | -0.369 | Destabilizing | 1.0 | D | 0.708 | prob.delet. | None | None | None | None | I |
| D/E | 0.9004 | likely_pathogenic | 0.8218 | pathogenic | -0.64 | Destabilizing | 1.0 | D | 0.456 | neutral | N | 0.488258499 | None | None | I |
| D/F | 0.9877 | likely_pathogenic | 0.982 | pathogenic | -0.478 | Destabilizing | 1.0 | D | 0.722 | prob.delet. | None | None | None | None | I |
| D/G | 0.8816 | likely_pathogenic | 0.8507 | pathogenic | -1.186 | Destabilizing | 1.0 | D | 0.714 | prob.delet. | N | 0.514493509 | None | None | I |
| D/H | 0.9234 | likely_pathogenic | 0.8877 | pathogenic | -0.86 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | N | 0.498755884 | None | None | I |
| D/I | 0.9772 | likely_pathogenic | 0.9716 | pathogenic | 0.124 | Stabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | I |
| D/K | 0.9819 | likely_pathogenic | 0.9757 | pathogenic | -0.612 | Destabilizing | 1.0 | D | 0.766 | deleterious | None | None | None | None | I |
| D/L | 0.9633 | likely_pathogenic | 0.9563 | pathogenic | 0.124 | Stabilizing | 1.0 | D | 0.751 | deleterious | None | None | None | None | I |
| D/M | 0.9913 | likely_pathogenic | 0.988 | pathogenic | 0.669 | Stabilizing | 1.0 | D | 0.7 | prob.neutral | None | None | None | None | I |
| D/N | 0.4157 | ambiguous | 0.3497 | ambiguous | -0.98 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | N | 0.521156535 | None | None | I |
| D/P | 0.9787 | likely_pathogenic | 0.9774 | pathogenic | -0.17 | Destabilizing | 1.0 | D | 0.774 | deleterious | None | None | None | None | I |
| D/Q | 0.9622 | likely_pathogenic | 0.9442 | pathogenic | -0.838 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | I |
| D/R | 0.9711 | likely_pathogenic | 0.966 | pathogenic | -0.498 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | I |
| D/S | 0.5937 | likely_pathogenic | 0.5145 | ambiguous | -1.309 | Destabilizing | 1.0 | D | 0.727 | prob.delet. | None | None | None | None | I |
| D/T | 0.8796 | likely_pathogenic | 0.8404 | pathogenic | -1.011 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | I |
| D/V | 0.9415 | likely_pathogenic | 0.9279 | pathogenic | -0.17 | Destabilizing | 1.0 | D | 0.754 | deleterious | N | 0.499894747 | None | None | I |
| D/W | 0.9964 | likely_pathogenic | 0.9957 | pathogenic | -0.293 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | None | I |
| D/Y | 0.9084 | likely_pathogenic | 0.8759 | pathogenic | -0.244 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | D | 0.526014399 | 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.