Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2479 | 7660;7661;7662 | chr2:178773621;178773620;178773619 | chr2:179638348;179638347;179638346 |
| N2AB | 2479 | 7660;7661;7662 | chr2:178773621;178773620;178773619 | chr2:179638348;179638347;179638346 |
| N2A | 2479 | 7660;7661;7662 | chr2:178773621;178773620;178773619 | chr2:179638348;179638347;179638346 |
| N2B | 2433 | 7522;7523;7524 | chr2:178773621;178773620;178773619 | chr2:179638348;179638347;179638346 |
| Novex-1 | 2433 | 7522;7523;7524 | chr2:178773621;178773620;178773619 | chr2:179638348;179638347;179638346 |
| Novex-2 | 2433 | 7522;7523;7524 | chr2:178773621;178773620;178773619 | chr2:179638348;179638347;179638346 |
| Novex-3 | 2479 | 7660;7661;7662 | chr2:178773621;178773620;178773619 | chr2:179638348;179638347;179638346 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/D | rs775065622  |
-2.87 | 0.997 | D | 0.749 | 0.565 | 0.71034540647 | gnomAD-2.1.1 | 7.97E-06 | None | None | None | None | N | None | 1.23077E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| Y/D | rs775065622 |
-2.87 | 0.997 | D | 0.749 | 0.565 | 0.71034540647 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Y/D | rs775065622 |
-2.87 | 0.997 | D | 0.749 | 0.565 | 0.71034540647 | gnomAD-4.0.0 | 3.71773E-06 | None | None | None | None | N | None | 8.01175E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Y/H | rs775065622 |
-1.802 | 0.999 | D | 0.681 | 0.463 | 0.401612077098 | gnomAD-2.1.1 | 1.2E-05 | None | None | None | None | N | None | 0 | 8.69E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| Y/H | rs775065622 |
-1.802 | 0.999 | D | 0.681 | 0.463 | 0.401612077098 | gnomAD-4.0.0 | 2.05231E-06 | None | None | None | None | N | None | 0 | 6.71021E-05 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.7422 | likely_pathogenic | 0.7285 | pathogenic | -3.003 | Highly Destabilizing | 0.983 | D | 0.603 | neutral | None | None | None | None | N |
| Y/C | 0.2277 | likely_benign | 0.2149 | benign | -1.516 | Destabilizing | 1.0 | D | 0.716 | prob.delet. | D | 0.552888603 | None | None | N |
| Y/D | 0.7232 | likely_pathogenic | 0.7088 | pathogenic | -2.618 | Highly Destabilizing | 0.997 | D | 0.749 | deleterious | D | 0.61523599 | None | None | N |
| Y/E | 0.8294 | likely_pathogenic | 0.8183 | pathogenic | -2.475 | Highly Destabilizing | 0.998 | D | 0.696 | prob.neutral | None | None | None | None | N |
| Y/F | 0.064 | likely_benign | 0.063 | benign | -1.155 | Destabilizing | 0.998 | D | 0.502 | neutral | N | 0.438537359 | None | None | N |
| Y/G | 0.7224 | likely_pathogenic | 0.7107 | pathogenic | -3.37 | Highly Destabilizing | 0.992 | D | 0.711 | prob.delet. | None | None | None | None | N |
| Y/H | 0.2236 | likely_benign | 0.217 | benign | -1.726 | Destabilizing | 0.999 | D | 0.681 | prob.neutral | D | 0.551571288 | None | None | N |
| Y/I | 0.453 | ambiguous | 0.4369 | ambiguous | -1.815 | Destabilizing | 0.999 | D | 0.736 | prob.delet. | None | None | None | None | N |
| Y/K | 0.755 | likely_pathogenic | 0.7438 | pathogenic | -1.851 | Destabilizing | 0.998 | D | 0.699 | prob.neutral | None | None | None | None | N |
| Y/L | 0.4162 | ambiguous | 0.4028 | ambiguous | -1.815 | Destabilizing | 0.996 | D | 0.573 | neutral | None | None | None | None | N |
| Y/M | 0.5563 | ambiguous | 0.5437 | ambiguous | -1.437 | Destabilizing | 1.0 | D | 0.702 | prob.neutral | None | None | None | None | N |
| Y/N | 0.3429 | ambiguous | 0.3308 | benign | -2.359 | Highly Destabilizing | 0.997 | D | 0.734 | prob.delet. | D | 0.61523599 | None | None | N |
| Y/P | 0.9906 | likely_pathogenic | 0.9902 | pathogenic | -2.218 | Highly Destabilizing | 0.999 | D | 0.77 | deleterious | None | None | None | None | N |
| Y/Q | 0.6326 | likely_pathogenic | 0.6167 | pathogenic | -2.259 | Highly Destabilizing | 0.999 | D | 0.735 | prob.delet. | None | None | None | None | N |
| Y/R | 0.6293 | likely_pathogenic | 0.6147 | pathogenic | -1.369 | Destabilizing | 0.999 | D | 0.741 | deleterious | None | None | None | None | N |
| Y/S | 0.4211 | ambiguous | 0.4061 | ambiguous | -2.803 | Highly Destabilizing | 0.889 | D | 0.479 | neutral | N | 0.457970067 | None | None | N |
| Y/T | 0.6433 | likely_pathogenic | 0.6246 | pathogenic | -2.56 | Highly Destabilizing | 0.995 | D | 0.707 | prob.neutral | None | None | None | None | N |
| Y/V | 0.431 | ambiguous | 0.4148 | ambiguous | -2.218 | Highly Destabilizing | 0.999 | D | 0.655 | neutral | None | None | None | None | N |
| Y/W | 0.4557 | ambiguous | 0.4473 | ambiguous | -0.554 | Destabilizing | 1.0 | D | 0.66 | 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.