Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5798 | 17617;17618;17619 | chr2:178731374;178731373;178731372 | chr2:179596101;179596100;179596099 |
| N2AB | 5481 | 16666;16667;16668 | chr2:178731374;178731373;178731372 | chr2:179596101;179596100;179596099 |
| N2A | 4554 | 13885;13886;13887 | chr2:178731374;178731373;178731372 | chr2:179596101;179596100;179596099 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | rs754818408  |
-0.485 | 1.0 | D | 0.738 | 0.689 | 0.534335327796 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.56E-05 | None | 0 | None | 0 | 0 | 0 |
| G/A | rs754818408 |
-0.485 | 1.0 | D | 0.738 | 0.689 | 0.534335327796 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.92901E-04 | None | 0 | 0 | 0 | 0 | 0 |
| G/A | rs754818408 |
-0.485 | 1.0 | D | 0.738 | 0.689 | 0.534335327796 | gnomAD-4.0.0 | 2.56225E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 4.84848E-05 | None | 0 | 0 | 0 | 0 | 0 |
| G/V | rs754818408 |
0.163 | 1.0 | D | 0.817 | 0.778 | 0.801928613238 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/V | rs754818408 |
0.163 | 1.0 | D | 0.817 | 0.778 | 0.801928613238 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 7.24E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/V | rs754818408 |
0.163 | 1.0 | D | 0.817 | 0.778 | 0.801928613238 | gnomAD-4.0.0 | 1.97218E-05 | None | None | None | None | N | None | 7.24113E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.4991 | ambiguous | 0.5463 | ambiguous | -0.622 | Destabilizing | 1.0 | D | 0.738 | prob.delet. | D | 0.54219868 | None | None | N |
| G/C | 0.8866 | likely_pathogenic | 0.9069 | pathogenic | -0.787 | Destabilizing | 1.0 | D | 0.776 | deleterious | None | None | None | None | N |
| G/D | 0.9255 | likely_pathogenic | 0.9437 | pathogenic | -0.862 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| G/E | 0.9548 | likely_pathogenic | 0.9672 | pathogenic | -0.836 | Destabilizing | 1.0 | D | 0.831 | deleterious | D | 0.613280348 | None | None | N |
| G/F | 0.99 | likely_pathogenic | 0.9916 | pathogenic | -0.788 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| G/H | 0.9802 | likely_pathogenic | 0.9869 | pathogenic | -1.384 | Destabilizing | 1.0 | D | 0.724 | prob.delet. | None | None | None | None | N |
| G/I | 0.9864 | likely_pathogenic | 0.9891 | pathogenic | 0.057 | Stabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| G/K | 0.9661 | likely_pathogenic | 0.9762 | pathogenic | -0.986 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| G/L | 0.9793 | likely_pathogenic | 0.9853 | pathogenic | 0.057 | Stabilizing | 1.0 | D | 0.804 | deleterious | None | None | None | None | N |
| G/M | 0.9807 | likely_pathogenic | 0.9866 | pathogenic | 0.017 | Stabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| G/N | 0.9455 | likely_pathogenic | 0.9629 | pathogenic | -0.822 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| G/P | 0.9992 | likely_pathogenic | 0.9992 | pathogenic | -0.125 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| G/Q | 0.9372 | likely_pathogenic | 0.9563 | pathogenic | -0.841 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| G/R | 0.9028 | likely_pathogenic | 0.9309 | pathogenic | -0.901 | Destabilizing | 1.0 | D | 0.821 | deleterious | D | 0.613078543 | None | None | N |
| G/S | 0.4846 | ambiguous | 0.5495 | ambiguous | -1.225 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | N |
| G/T | 0.9155 | likely_pathogenic | 0.9383 | pathogenic | -1.087 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| G/V | 0.9636 | likely_pathogenic | 0.9717 | pathogenic | -0.125 | Destabilizing | 1.0 | D | 0.817 | deleterious | D | 0.613280348 | None | None | N |
| G/W | 0.9845 | likely_pathogenic | 0.9873 | pathogenic | -1.302 | Destabilizing | 1.0 | D | 0.77 | deleterious | D | 0.613482152 | None | None | N |
| G/Y | 0.9872 | likely_pathogenic | 0.9901 | pathogenic | -0.783 | Destabilizing | 1.0 | D | 0.777 | 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.