Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6098 | 18517;18518;18519 | chr2:178730108;178730107;178730106 | chr2:179594835;179594834;179594833 |
| N2AB | 5781 | 17566;17567;17568 | chr2:178730108;178730107;178730106 | chr2:179594835;179594834;179594833 |
| N2A | 4854 | 14785;14786;14787 | chr2:178730108;178730107;178730106 | chr2:179594835;179594834;179594833 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | rs727505140  |
-1.055 | 0.004 | N | 0.263 | 0.12 | 0.165133752707 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 6.48E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/A | rs727505140 |
-1.055 | 0.004 | N | 0.263 | 0.12 | 0.165133752707 | gnomAD-3.1.2 | 1.39E-05 | None | None | None | None | N | None | 5.26E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/A | rs727505140 |
-1.055 | 0.004 | N | 0.263 | 0.12 | 0.165133752707 | gnomAD-4.0.0 | 3.89601E-06 | None | None | None | None | N | None | 5.3984E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/I | rs765693409 |
-0.33 | 0.497 | D | 0.743 | 0.279 | 0.48505662038 | gnomAD-2.1.1 | 8.1E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.79E-05 | 0 |
| T/I | rs765693409 |
-0.33 | 0.497 | D | 0.743 | 0.279 | 0.48505662038 | gnomAD-4.0.0 | 3.20101E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.75298E-06 | 0 | 0 |
| T/S | rs765693409 |
None | 0.001 | N | 0.239 | 0.082 | 0.148003135375 | gnomAD-4.0.0 | 1.60051E-06 | None | None | None | None | N | None | 5.70972E-05 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0737 | likely_benign | 0.0673 | benign | -0.911 | Destabilizing | 0.004 | N | 0.263 | neutral | N | 0.504968866 | None | None | N |
| T/C | 0.4527 | ambiguous | 0.3932 | ambiguous | -0.526 | Destabilizing | 0.909 | D | 0.709 | prob.delet. | None | None | None | None | N |
| T/D | 0.2298 | likely_benign | 0.2137 | benign | 0.211 | Stabilizing | 0.396 | N | 0.698 | prob.neutral | None | None | None | None | N |
| T/E | 0.2311 | likely_benign | 0.2 | benign | 0.188 | Stabilizing | 0.157 | N | 0.675 | neutral | None | None | None | None | N |
| T/F | 0.157 | likely_benign | 0.1515 | benign | -1.204 | Destabilizing | 0.726 | D | 0.805 | deleterious | None | None | None | None | N |
| T/G | 0.2356 | likely_benign | 0.2039 | benign | -1.111 | Destabilizing | 0.157 | N | 0.712 | prob.delet. | None | None | None | None | N |
| T/H | 0.1766 | likely_benign | 0.17 | benign | -1.428 | Destabilizing | 0.909 | D | 0.775 | deleterious | None | None | None | None | N |
| T/I | 0.1176 | likely_benign | 0.1068 | benign | -0.477 | Destabilizing | 0.497 | N | 0.743 | deleterious | D | 0.52882716 | None | None | N |
| T/K | 0.1794 | likely_benign | 0.1584 | benign | -0.448 | Destabilizing | 0.157 | N | 0.677 | prob.neutral | None | None | None | None | N |
| T/L | 0.0801 | likely_benign | 0.0742 | benign | -0.477 | Destabilizing | 0.272 | N | 0.626 | neutral | None | None | None | None | N |
| T/M | 0.0863 | likely_benign | 0.0812 | benign | -0.109 | Destabilizing | 0.968 | D | 0.713 | prob.delet. | None | None | None | None | N |
| T/N | 0.0772 | likely_benign | 0.0785 | benign | -0.315 | Destabilizing | 0.331 | N | 0.589 | neutral | N | 0.481726647 | None | None | N |
| T/P | 0.1264 | likely_benign | 0.1087 | benign | -0.592 | Destabilizing | 0.497 | N | 0.749 | deleterious | N | 0.520170227 | None | None | N |
| T/Q | 0.1755 | likely_benign | 0.1593 | benign | -0.554 | Destabilizing | 0.567 | D | 0.74 | deleterious | None | None | None | None | N |
| T/R | 0.1374 | likely_benign | 0.1276 | benign | -0.246 | Destabilizing | 0.567 | D | 0.747 | deleterious | None | None | None | None | N |
| T/S | 0.0817 | likely_benign | 0.0806 | benign | -0.691 | Destabilizing | 0.001 | N | 0.239 | neutral | N | 0.498213465 | None | None | N |
| T/V | 0.1009 | likely_benign | 0.0931 | benign | -0.592 | Destabilizing | 0.272 | N | 0.535 | neutral | None | None | None | None | N |
| T/W | 0.4942 | ambiguous | 0.4555 | ambiguous | -1.065 | Destabilizing | 0.968 | D | 0.759 | deleterious | None | None | None | None | N |
| T/Y | 0.1914 | likely_benign | 0.1891 | benign | -0.825 | Destabilizing | 0.726 | D | 0.8 | 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.