Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20670 | 62233;62234;62235 | chr2:178589717;178589716;178589715 | chr2:179454444;179454443;179454442 |
| N2AB | 19029 | 57310;57311;57312 | chr2:178589717;178589716;178589715 | chr2:179454444;179454443;179454442 |
| N2A | 18102 | 54529;54530;54531 | chr2:178589717;178589716;178589715 | chr2:179454444;179454443;179454442 |
| N2B | 11605 | 35038;35039;35040 | chr2:178589717;178589716;178589715 | chr2:179454444;179454443;179454442 |
| Novex-1 | 11730 | 35413;35414;35415 | chr2:178589717;178589716;178589715 | chr2:179454444;179454443;179454442 |
| Novex-2 | 11797 | 35614;35615;35616 | chr2:178589717;178589716;178589715 | chr2:179454444;179454443;179454442 |
| 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 | rs1307936736  |
None | 1.0 | N | 0.799 | 0.416 | 0.390842690916 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/D | rs1307936736 |
None | 1.0 | N | 0.799 | 0.416 | 0.390842690916 | gnomAD-4.0.0 | 1.85944E-06 | None | None | None | None | N | None | 0 | 1.6675E-05 | None | 0 | 4.46389E-05 | None | 0 | 0 | 0 | 0 | 0 |
| G/S | rs774150150 |
-1.026 | 1.0 | N | 0.713 | 0.392 | 0.355450299083 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| G/S | rs774150150 |
-1.026 | 1.0 | N | 0.713 | 0.392 | 0.355450299083 | gnomAD-4.0.0 | 2.0529E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79916E-06 | 1.15947E-05 | 0 |
| G/V | rs1307936736 |
-0.239 | 1.0 | N | 0.829 | 0.493 | 0.648347046735 | gnomAD-2.1.1 | 7.15E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.57E-05 | 0 |
| G/V | rs1307936736 |
-0.239 | 1.0 | N | 0.829 | 0.493 | 0.648347046735 | 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 |
| G/V | rs1307936736 |
-0.239 | 1.0 | N | 0.829 | 0.493 | 0.648347046735 | gnomAD-4.0.0 | 4.3387E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.93411E-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 | 0.4747 | ambiguous | 0.4745 | ambiguous | -0.896 | Destabilizing | 1.0 | D | 0.655 | neutral | N | 0.506220942 | None | None | N |
| G/C | 0.8355 | likely_pathogenic | 0.8067 | pathogenic | -1.25 | Destabilizing | 1.0 | D | 0.797 | deleterious | N | 0.508248858 | None | None | N |
| G/D | 0.9078 | likely_pathogenic | 0.9179 | pathogenic | -2.167 | Highly Destabilizing | 1.0 | D | 0.799 | deleterious | N | 0.516707933 | None | None | N |
| G/E | 0.9007 | likely_pathogenic | 0.8973 | pathogenic | -2.206 | Highly Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| G/F | 0.9786 | likely_pathogenic | 0.9781 | pathogenic | -1.224 | Destabilizing | 1.0 | D | 0.812 | deleterious | None | None | None | None | N |
| G/H | 0.9668 | likely_pathogenic | 0.9684 | pathogenic | -1.283 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| G/I | 0.9634 | likely_pathogenic | 0.9703 | pathogenic | -0.556 | Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| G/K | 0.9494 | likely_pathogenic | 0.9422 | pathogenic | -1.234 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| G/L | 0.9336 | likely_pathogenic | 0.9421 | pathogenic | -0.556 | Destabilizing | 1.0 | D | 0.826 | deleterious | None | None | None | None | N |
| G/M | 0.9412 | likely_pathogenic | 0.9517 | pathogenic | -0.585 | Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | N |
| G/N | 0.9162 | likely_pathogenic | 0.9313 | pathogenic | -1.125 | Destabilizing | 1.0 | D | 0.736 | prob.delet. | None | None | None | None | N |
| G/P | 0.9969 | likely_pathogenic | 0.9969 | pathogenic | -0.633 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| G/Q | 0.8941 | likely_pathogenic | 0.8973 | pathogenic | -1.383 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| G/R | 0.894 | likely_pathogenic | 0.8764 | pathogenic | -0.893 | Destabilizing | 1.0 | D | 0.814 | deleterious | N | 0.5072349 | None | None | N |
| G/S | 0.4461 | ambiguous | 0.4873 | ambiguous | -1.279 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | N | 0.519937452 | None | None | N |
| G/T | 0.7608 | likely_pathogenic | 0.8 | pathogenic | -1.264 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| G/V | 0.9086 | likely_pathogenic | 0.9196 | pathogenic | -0.633 | Destabilizing | 1.0 | D | 0.829 | deleterious | N | 0.507741879 | None | None | N |
| G/W | 0.9658 | likely_pathogenic | 0.9638 | pathogenic | -1.544 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| G/Y | 0.9691 | likely_pathogenic | 0.9707 | pathogenic | -1.145 | Destabilizing | 1.0 | D | 0.805 | 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.