Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 13740 | 41443;41444;41445 | chr2:178636509;178636508;178636507 | chr2:179501236;179501235;179501234 |
| N2AB | 12099 | 36520;36521;36522 | chr2:178636509;178636508;178636507 | chr2:179501236;179501235;179501234 |
| N2A | 11172 | 33739;33740;33741 | chr2:178636509;178636508;178636507 | chr2:179501236;179501235;179501234 |
| N2B | 4675 | 14248;14249;14250 | chr2:178636509;178636508;178636507 | chr2:179501236;179501235;179501234 |
| Novex-1 | 4800 | 14623;14624;14625 | chr2:178636509;178636508;178636507 | chr2:179501236;179501235;179501234 |
| Novex-2 | 4867 | 14824;14825;14826 | chr2:178636509;178636508;178636507 | chr2:179501236;179501235;179501234 |
| 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/A | rs1294256042  |
None | 1.0 | N | 0.757 | 0.56 | 0.510346895759 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| D/A | rs1294256042 |
None | 1.0 | N | 0.757 | 0.56 | 0.510346895759 | gnomAD-4.0.0 | 6.5754E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47093E-05 | 0 | 0 |
| D/E | rs1559992349 |
None | 1.0 | N | 0.464 | 0.194 | 0.496495002422 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.91E-06 | 0 |
| D/E | rs1559992349 |
None | 1.0 | N | 0.464 | 0.194 | 0.496495002422 | gnomAD-4.0.0 | 1.59196E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 2.41429E-04 | 0 | 0 | 0 |
| D/N | None | None | 1.0 | N | 0.636 | 0.397 | 0.410071178582 | gnomAD-4.0.0 | 1.59196E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85961E-06 | 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 | 0.8466 | likely_pathogenic | 0.8681 | pathogenic | -0.355 | Destabilizing | 1.0 | D | 0.757 | deleterious | N | 0.508614965 | None | None | N |
| D/C | 0.9919 | likely_pathogenic | 0.9924 | pathogenic | -0.314 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| D/E | 0.7137 | likely_pathogenic | 0.745 | pathogenic | -0.885 | Destabilizing | 1.0 | D | 0.464 | neutral | N | 0.506636505 | None | None | N |
| D/F | 0.9466 | likely_pathogenic | 0.9546 | pathogenic | -0.476 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | N |
| D/G | 0.8647 | likely_pathogenic | 0.8744 | pathogenic | -0.687 | Destabilizing | 1.0 | D | 0.741 | deleterious | N | 0.509901372 | None | None | N |
| D/H | 0.9172 | likely_pathogenic | 0.915 | pathogenic | -1.002 | Destabilizing | 1.0 | D | 0.74 | deleterious | N | 0.506734945 | None | None | N |
| D/I | 0.9062 | likely_pathogenic | 0.9241 | pathogenic | 0.507 | Stabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| D/K | 0.9645 | likely_pathogenic | 0.9597 | pathogenic | -0.778 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| D/L | 0.8911 | likely_pathogenic | 0.8983 | pathogenic | 0.507 | Stabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| D/M | 0.9726 | likely_pathogenic | 0.9793 | pathogenic | 0.955 | Stabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| D/N | 0.5228 | ambiguous | 0.5408 | ambiguous | -0.972 | Destabilizing | 1.0 | D | 0.636 | neutral | N | 0.49899034 | None | None | N |
| D/P | 0.9937 | likely_pathogenic | 0.995 | pathogenic | 0.246 | Stabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| D/Q | 0.9414 | likely_pathogenic | 0.9492 | pathogenic | -0.811 | Destabilizing | 1.0 | D | 0.692 | prob.neutral | None | None | None | None | N |
| D/R | 0.9703 | likely_pathogenic | 0.967 | pathogenic | -0.81 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| D/S | 0.7668 | likely_pathogenic | 0.7921 | pathogenic | -1.273 | Destabilizing | 1.0 | D | 0.635 | neutral | None | None | None | None | N |
| D/T | 0.8831 | likely_pathogenic | 0.9096 | pathogenic | -1.008 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| D/V | 0.8185 | likely_pathogenic | 0.8407 | pathogenic | 0.246 | Stabilizing | 1.0 | D | 0.802 | deleterious | N | 0.500266614 | None | None | N |
| D/W | 0.9906 | likely_pathogenic | 0.9928 | pathogenic | -0.596 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | N |
| D/Y | 0.7619 | likely_pathogenic | 0.7687 | pathogenic | -0.337 | Destabilizing | 1.0 | D | 0.771 | deleterious | N | 0.513609859 | 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.