Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33115 | 99568;99569;99570 | chr2:178537864;178537863;178537862 | chr2:179402591;179402590;179402589 |
| N2AB | 31474 | 94645;94646;94647 | chr2:178537864;178537863;178537862 | chr2:179402591;179402590;179402589 |
| N2A | 30547 | 91864;91865;91866 | chr2:178537864;178537863;178537862 | chr2:179402591;179402590;179402589 |
| N2B | 24050 | 72373;72374;72375 | chr2:178537864;178537863;178537862 | chr2:179402591;179402590;179402589 |
| Novex-1 | 24175 | 72748;72749;72750 | chr2:178537864;178537863;178537862 | chr2:179402591;179402590;179402589 |
| Novex-2 | 24242 | 72949;72950;72951 | chr2:178537864;178537863;178537862 | chr2:179402591;179402590;179402589 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/D | rs879247634  |
-1.137 | 1.0 | D | 0.863 | 0.636 | None | gnomAD-2.1.1 | 7.16E-06 | None | None | None | None | N | None | 8.27E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/D | rs879247634 |
-1.137 | 1.0 | D | 0.863 | 0.636 | None | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 7.24E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/D | rs879247634 |
-1.137 | 1.0 | D | 0.863 | 0.636 | None | gnomAD-4.0.0 | 7.69039E-06 | None | None | None | None | N | None | 6.77002E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 4.78852E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.6057 | likely_pathogenic | 0.6302 | pathogenic | -0.519 | Destabilizing | 0.999 | D | 0.786 | deleterious | D | 0.622432979 | None | None | N |
| G/C | 0.7734 | likely_pathogenic | 0.791 | pathogenic | -0.842 | Destabilizing | 1.0 | D | 0.827 | deleterious | D | 0.648576504 | None | None | N |
| G/D | 0.6903 | likely_pathogenic | 0.7387 | pathogenic | -1.05 | Destabilizing | 1.0 | D | 0.863 | deleterious | D | 0.558134089 | None | None | N |
| G/E | 0.7524 | likely_pathogenic | 0.7804 | pathogenic | -1.208 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| G/F | 0.9618 | likely_pathogenic | 0.9651 | pathogenic | -1.184 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| G/H | 0.872 | likely_pathogenic | 0.8953 | pathogenic | -0.832 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| G/I | 0.966 | likely_pathogenic | 0.971 | pathogenic | -0.554 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| G/K | 0.8669 | likely_pathogenic | 0.8921 | pathogenic | -1.085 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| G/L | 0.9136 | likely_pathogenic | 0.9174 | pathogenic | -0.554 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| G/M | 0.9414 | likely_pathogenic | 0.9487 | pathogenic | -0.39 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| G/N | 0.7284 | likely_pathogenic | 0.7627 | pathogenic | -0.663 | Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| G/P | 0.9908 | likely_pathogenic | 0.9923 | pathogenic | -0.507 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| G/Q | 0.7877 | likely_pathogenic | 0.8249 | pathogenic | -1.005 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| G/R | 0.7597 | likely_pathogenic | 0.7887 | pathogenic | -0.553 | Destabilizing | 1.0 | D | 0.861 | deleterious | D | 0.602900788 | None | None | N |
| G/S | 0.4208 | ambiguous | 0.4491 | ambiguous | -0.789 | Destabilizing | 1.0 | D | 0.837 | deleterious | D | 0.586477819 | None | None | N |
| G/T | 0.7966 | likely_pathogenic | 0.8099 | pathogenic | -0.891 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| G/V | 0.9168 | likely_pathogenic | 0.9318 | pathogenic | -0.507 | Destabilizing | 1.0 | D | 0.831 | deleterious | D | 0.622836588 | None | None | N |
| G/W | 0.904 | likely_pathogenic | 0.9095 | pathogenic | -1.35 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| G/Y | 0.9239 | likely_pathogenic | 0.9362 | pathogenic | -1.017 | Destabilizing | 1.0 | D | 0.834 | deleterious | 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.